Ground Truth
← Ground Truth overview
proteinTP53BRCA1CFTRHBBPAH
41 precomputed genes

BRCA1

· Breast & ovarian cancer
AI wrongAI rightno data
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what is BRCA1?

A DNA-repair protein. Inherited faults sharply raise the lifetime risk of breast and ovarian cancer. It is the well-known “BRCA gene.”


how the AI did on BRCA1

AlphaMissense matched the confirmed verdict on 300 of 317 mutations (95%). It missed 14 and raised 3 false alarms.

accuracy
vs doctors
0.96
vs lab
0.91

Note: AlphaMissense was trained on ClinVar, so “vs doctors” partly grades it on its own answer key and reads high. The independent check is “vs lab.” why this matters →

▸ the breakdown · true / false positives
AI vs doctors
134TP
14FN
3FP
166TN

the mutation
M1V
Met → Val at position 1
✗ AI was wrongFN

AlphaMissense called it harmless, but it is disease-causing. A miss.

what each source says
AlphaMissense
the AI
0.165benign
ClinVar
doctors · ★★
pathogenic↗
Every BRCA1 variant: the raw evidence

Each row: what the AI guessed, and what each real source said. Doctors (ClinVar) is the clinical record the AI was tuned on; the lab test is the independent check that isn’t circular. Not measured in the lab column means that experiment did not include this variant.

MutationThe AI’s guessClinicalLab testDid the AI get it right?
M1Iharmful0.67harmful★★★↗Not measured✓ right
M1Runsure0.56harmful★★↗Not measuredAI unsure
M1Tharmful0.58harmful★★↗Not measured✓ right
M1Vharmless0.17harmful★★↗Not measured✗ missed it
V11Gharmful0.70harmful★★★↗harmful✓ right
M18Kharmful0.96harmful★★↗Not measured✓ right
M18Rharmful0.96harmful★★↗harmful✓ right
M18Tharmful0.93harmful★★★↗harmful✓ right
L22Sharmful0.98harmful★★★↗harmful✓ right
C24Gharmful0.99harmful★★↗Not measured✓ right
C24Rharmful1.00harmful★★↗Not measured✓ right
C24Sharmful1.00harmful★★↗Not measured✓ right
C24Yharmful1.00harmful★★↗Not measured✓ right
P25Lharmful0.98harmful★★★↗Not measured✓ right
C27Fharmful0.99harmful★★↗Not measured✓ right
C27Wharmful1.00harmful★★↗Not measured✓ right
C27Yharmful1.00harmful★★↗Not measured✓ right
P34Lharmful0.98harmful★★★↗Not measured✓ right
P34Sharmful0.98harmful★★★↗Not measured✓ right
T37Kharmful0.97harmful★★★↗Not measured✓ right
T37Rharmful0.96harmful★★↗harmful✓ right
C39Fharmful0.99harmful★★↗harmful✓ right
C39Gharmful0.97harmful★★↗harmful✓ right
C39Rharmful1.00harmful★★★↗harmful✓ right
C39Sharmful1.00harmful★★↗Not measured✓ right
C39Wharmful0.99harmful★★↗Not measured✓ right
C39Yharmful0.99harmful★★↗Not measured✓ right
H41Lharmful0.98harmful★★★↗harmful✓ right
H41Nharmful0.98harmful★★★↗Not measured✓ right
H41Rharmful0.98harmful★★★↗harmful✓ right
H41Yharmful0.97harmful★★↗Not measured✓ right
C44Fharmful0.99harmful★★★↗Not measured✓ right
C44Sharmful1.00harmful★★★↗Not measured✓ right
C44Yharmful1.00harmful★★★↗Not measured✓ right
K45Qunsure0.51harmless★★★↗Not measuredAI unsure
C47Fharmful0.99harmful★★↗Not measured✓ right
C47Rharmful1.00harmful★★↗harmful✓ right
C47Yharmful1.00harmful★★★↗Not measured✓ right
C61Gharmful0.99harmful★★★↗harmful✓ right
C61Rharmful1.00harmful★★↗Not measured✓ right
C61Sharmful1.00harmful★★↗Not measured✓ right
C61Yharmful0.99harmful★★↗Not measured✓ right
C64Gharmful0.97harmful★★↗Not measured✓ right
C64Rharmful1.00harmful★★↗Not measured✓ right
C64Sharmful1.00harmful★★↗Not measured✓ right
C64Wharmful0.99harmful★★↗Not measured✓ right
C64Yharmful0.99harmful★★★↗Not measured✓ right
D67Yharmless0.22harmless★★★↗Not measured✓ right
R71Gharmful0.90harmful★★★↗harmless✓ right
R71Kharmful0.68harmful★★↗Not measured✓ right
R71Mharmful0.97harmful★★↗Not measured✓ right
R71Tharmful0.97harmful★★↗Not measured✓ right
Q94Hunsure0.44harmless★★↗Not measuredAI unsure
D96Gharmful0.92harmful★★↗Not measured✓ right
D96Nharmful0.85harmful★★★↗Not measured✓ right
D96Vharmful0.94harmful★★↗Not measured✓ right
A102Gharmless0.14harmless★★★↗harmless✓ right
Y105Charmless0.09harmless★★★↗harmless✓ right
I124Vharmless0.07harmless★★★↗harmless✓ right
N132Kunsure0.51harmless★★★↗Not measuredAI unsure
R133Charmful0.68harmless★★★↗Not measured✗ false alarm
L138Rharmless0.05harmless★★↗harmless✓ right
P142Hharmless0.12harmless★★★↗Not measured✓ right
E143Kharmless0.08harmless★★★↗Not measured✓ right
S153Rharmless0.30harmless★★↗harmless✓ right
Q155Eharmless0.09harmless★★★↗harmless✓ right
R170Wharmless0.09harmless★★★↗Not measured✓ right
Y179Charmless0.18harmless★★★↗harmless✓ right
S186Yunsure0.36harmless★★★↗Not measuredAI unsure
V191Iharmless0.07harmless★★★↗Not measured✓ right
D214Gharmless0.08harmless★★★↗Not measured✓ right
H239Rharmless0.07harmless★★★↗Not measured✓ right
L246Vharmless0.08harmless★★★↗Not measured✓ right
N247Dharmless0.12harmless★★↗Not measured✓ right
V271Mharmless0.15harmless★★★↗Not measured✓ right
G275Dharmless0.33harmless★★★↗Not measured✓ right
G275Sharmless0.19harmless★★★↗Not measured✓ right
T276Rharmless0.15harmless★★★↗Not measured✓ right
A280Gharmless0.22harmless★★★↗Not measured✓ right
M297Iunsure0.42harmless★★★↗Not measuredAI unsure
S316Gharmless0.15harmless★★★↗Not measured✓ right
T333Aharmless0.10harmless★★★↗Not measured✓ right
P334Hharmless0.15harmless★★↗Not measured✓ right
P334Lharmless0.10harmless★★★↗Not measured✓ right
P346Sharmless0.09harmless★★★↗Not measured✓ right
Q356Rharmless0.11harmless★★★↗Not measured✓ right
L358Pharmless0.05harmless★★↗Not measured✓ right
D369Nharmless0.10harmless★★★↗Not measured✓ right
I379Munsure0.35harmless★★↗Not measuredAI unsure
S387Tharmless0.12harmless★★★↗Not measured✓ right
D411Eharmless0.12harmless★★★↗Not measured✓ right
L413Vharmless0.08harmless★★↗Not measured✓ right
F461Lharmful0.98harmless★★★↗Not measured✗ false alarm
N473Iharmless0.15harmless★★★↗Not measured✓ right
N473Sharmless0.09harmless★★★↗Not measured✓ right
H476Rharmless0.09harmless★★↗Not measured✓ right
F486Lunsure0.36harmless★★★↗Not measuredAI unsure
P490Sharmless0.11harmless★★↗Not measured✓ right
I492Vharmless0.09harmless★★↗Not measured✓ right
R496Charmless0.08harmless★★★↗Not measured✓ right
R496Hharmless0.06harmless★★★↗Not measured✓ right
R504Hharmless0.10harmless★★★↗Not measured✓ right
L512Fharmless0.27harmless★★★↗Not measured✓ right
T539Mharmless0.06harmless★★★↗Not measured✓ right
N550Hharmless0.10harmless★★★↗Not measured✓ right
P568Lharmless0.07harmless★★★↗Not measured✓ right
E597Kharmless0.25harmless★★★↗Not measured✓ right
R612Gharmless0.29harmless★★★↗Not measured✓ right
A622Vharmless0.14harmless★★★↗Not measured✓ right
D642Hharmless0.32harmless★★★↗Not measured✓ right
S643Gharmless0.13harmless★★★↗Not measured✓ right
L668Fharmless0.11harmless★★★↗Not measured✓ right
D693Nharmless0.07harmless★★★↗Not measured✓ right
D695Yharmless0.11harmless★★★↗Not measured✓ right
K719Eharmless0.07harmless★★★↗Not measured✓ right
N723Dharmless0.10harmless★★★↗Not measured✓ right
P727Lharmless0.08harmless★★★↗Not measured✓ right
E736Aharmless0.12harmless★★↗Not measured✓ right
E736Gharmless0.08harmless★★↗Not measured✓ right
A744Tharmless0.07harmless★★↗Not measured✓ right
R762Sharmless0.28harmless★★★↗Not measured✓ right
V772Aharmless0.32harmless★★★↗Not measured✓ right
I783Vharmless0.07harmless★★↗Not measured✓ right
S784Lharmless0.19harmless★★★↗Not measured✓ right
Q804Hharmless0.13harmless★★★↗Not measured✓ right
N810Yharmless0.11harmless★★★↗Not measured✓ right
K820Eharmless0.07harmless★★★↗Not measured✓ right
T826Kharmless0.12harmless★★★↗Not measured✓ right
R841Qharmless0.06harmless★★↗Not measured✓ right
R841Wharmless0.08harmless★★★↗Not measured✓ right
E842Gharmless0.09harmless★★★↗Not measured✓ right
Y856Hharmless0.17harmless★★★↗Not measured✓ right
K862Eharmless0.11harmless★★★↗Not measured✓ right
R866Charmless0.24harmless★★★↗Not measured✓ right
R866Hharmless0.19harmless★★★↗Not measured✓ right
P871Lharmless0.04harmless★★★↗Not measured✓ right
G890Vharmless0.09harmless★★★↗Not measured✓ right
F901Lharmless0.18harmless★★↗Not measured✓ right
K912Rharmless0.08harmless★★↗Not measured✓ right
V920Iharmless0.08harmless★★★↗Not measured✓ right
I925Lharmless0.09harmless★★★↗Not measured✓ right
G933Aharmless0.10harmless★★★↗Not measured✓ right
L954Qharmless0.08harmless★★↗Not measured✓ right
E962Kharmless0.08harmless★★★↗Not measured✓ right
P968Aharmless0.06harmless★★↗Not measured✓ right
H971Rharmless0.08harmless★★★↗Not measured✓ right
R979Charmless0.07harmless★★↗Not measured✓ right
M1008Iharmless0.13harmless★★★↗Not measured✓ right
M1008Vharmless0.05harmless★★★↗Not measured✓ right
P1020Sharmless0.10harmless★★↗Not measured✓ right
R1028Charmless0.08harmless★★★↗Not measured✓ right
R1028Hharmless0.06harmless★★★↗Not measured✓ right
E1038Gharmless0.10harmless★★★↗Not measured✓ right
S1040Nharmless0.12harmless★★★↗Not measured✓ right
I1044Vharmless0.08harmless★★★↗Not measured✓ right
G1048Vharmless0.11harmless★★★↗Not measured✓ right
P1099Lharmless0.09harmless★★★↗Not measured✓ right
S1101Nharmless0.08harmless★★★↗Not measured✓ right
K1109Nharmless0.29harmless★★★↗Not measured✓ right
S1139Iharmless0.10harmless★★★↗Not measured✓ right
S1140Gharmless0.08harmless★★★↗Not measured✓ right
P1150Sunsure0.54harmless★★★↗Not measuredAI unsure
D1155Hharmless0.15harmless★★★↗Not measured✓ right
V1181Iharmless0.08harmless★★★↗Not measured✓ right
K1183Rharmless0.06harmless★★★↗Not measured✓ right
G1184Rharmless0.10harmless★★↗Not measured✓ right
Q1200Hharmless0.16harmless★★★↗Not measured✓ right
G1201Sharmless0.09harmless★★↗Not measured✓ right
Y1202Hharmless0.08harmless★★↗Not measured✓ right
R1203Qharmless0.07harmless★★★↗Not measured✓ right
E1214Kharmless0.16harmless★★★↗Not measured✓ right
E1219Dharmless0.16harmless★★★↗Not measured✓ right
L1223Fharmless0.16harmless★★↗Not measured✓ right
N1236Kharmless0.16harmless★★★↗Not measured✓ right
P1238Lharmless0.11harmless★★★↗Not measured✓ right
T1242Aharmless0.08harmless★★★↗Not measured✓ right
R1243Tharmless0.11harmless★★↗Not measured✓ right
V1247Iharmless0.09harmless★★★↗Not measured✓ right
E1250Kharmless0.09harmless★★★↗Not measured✓ right
S1266Tharmless0.08harmless★★★↗Not measured✓ right
Q1273Rharmless0.09harmless★★↗Not measured✓ right
I1275Vharmless0.09harmless★★★↗Not measured✓ right
L1276Vharmless0.08harmless★★↗Not measured✓ right
H1283Rharmless0.09harmless★★↗Not measured✓ right
T1312Sharmless0.09harmless★★↗Not measured✓ right
G1332Eharmless0.07harmless★★↗Not measured✓ right
E1346Kharmless0.11harmless★★↗Not measured✓ right
R1347Gharmless0.12harmless★★★↗Not measured✓ right
T1349Mharmless0.09harmless★★★↗Not measured✓ right
M1361Lharmless0.13harmless★★★↗Not measured✓ right
V1378Iharmless0.07harmless★★★↗Not measured✓ right
S1387Pharmless0.16harmless★★★↗Not measured✓ right
Q1395Hharmful0.68harmful★★★↗Not measured✓ right
H1402Yharmless0.09harmless★★★↗Not measured✓ right
I1405Vharmless0.09harmless★★↗Not measured✓ right
M1411Tharmful0.90harmful★★↗Not measured✓ right
E1419Qharmless0.11harmless★★★↗Not measured✓ right
R1443Gharmless0.09harmless★★★↗Not measured✓ right
N1468Hharmless0.11harmless★★★↗Not measured✓ right
R1495Kharmless0.11harmful★★↗Not measured✗ missed it
R1495Mharmless0.16harmful★★↗Not measured✗ missed it
R1495Tharmless0.13harmful★★★↗Not measured✗ missed it
R1507Tharmless0.10harmless★★★↗Not measured✓ right
S1512Iharmless0.14harmless★★★↗Not measured✓ right
G1515Eharmless0.10harmless★★↗Not measured✓ right
V1534Mharmless0.09harmless★★★↗Not measured✓ right
D1546Nharmless0.08harmless★★★↗Not measured✓ right
D1546Yharmless0.08harmless★★★↗Not measured✓ right
E1559Kharmless0.13harmful★★★↗Not measured✗ missed it
E1559Qharmless0.14harmful★★↗Not measured✗ missed it
T1561Iharmless0.16harmless★★↗Not measured✓ right
L1564Pharmless0.18harmless★★★↗Not measured✓ right
S1577Pharmless0.12harmless★★↗Not measured✓ right
A1584Sharmless0.09harmless★★↗Not measured✓ right
R1589Hharmless0.06harmless★★↗Not measured✓ right
K1606Eharmless0.07harmless★★★↗Not measured✓ right
S1613Charmless0.10harmless★★↗Not measured✓ right
S1613Gharmless0.08harmless★★★↗Not measured✓ right
P1614Sharmless0.09harmless★★★↗Not measured✓ right
A1623Gharmless0.11harmful★★↗Not measured✗ missed it
M1628Tharmless0.07harmless★★★↗Not measured✓ right
S1633Gharmless0.07harmless★★↗Not measured✓ right
P1637Lharmless0.12harmless★★★↗Not measured✓ right
M1652Iunsure0.39harmless★★★↗Not measuredAI unsure
M1652Tharmful0.68harmless★★★↗Not measured✗ false alarm
S1655Fharmful0.89harmful★★↗Not measured✓ right
S1655Pharmful0.95harmful★★★↗Not measured✓ right
F1662Sharmless0.12harmless★★★↗Not measured✓ right
L1664Pharmless0.28harmless★★★↗Not measured✓ right
T1675Iharmless0.11harmless★★★↗Not measured✓ right
E1682Kharmless0.08harmless★★★↗Not measured✓ right
T1685Aunsure0.52harmful★★★↗Not measuredAI unsure
T1685Iharmful0.93harmful★★★↗Not measured✓ right
H1686Dharmful0.92harmful★★↗Not measured✓ right
H1686Qharmful0.94harmful★★↗Not measured✓ right
H1686Rharmful0.93harmful★★↗Not measured✓ right
H1686Yunsure0.56harmful★★★↗Not measuredAI unsure
V1687Gharmful0.93harmful★★↗Not measured✓ right
M1689Kharmful0.93harmful★★↗Not measured✓ right
M1689Rharmful0.93harmful★★↗Not measured✓ right
T1691Iharmful0.90harmful★★↗Not measured✓ right
T1691Kharmful0.94harmful★★↗Not measured✓ right
T1691Rharmful0.91harmful★★↗Not measured✓ right
D1692Hharmful0.89harmful★★★↗Not measured✓ right
D1692Nharmless0.29harmful★★↗Not measured✗ missed it
D1692Vharmful0.88harmful★★★↗Not measured✓ right
C1697Rharmful0.96harmful★★★↗Not measured✓ right
C1697Yharmful0.96harmful★★★↗Not measured✓ right
R1699Lharmful0.93harmful★★↗Not measured✓ right
R1699Qharmful0.73harmful★★★↗Not measured✓ right
R1699Wharmful0.82harmful★★★↗Not measured✓ right
T1700Aharmful0.90harmful★★★↗Not measured✓ right
Y1703Charmful0.97harmful★★★↗Not measured✓ right
Y1703Dharmful0.99harmful★★↗Not measured✓ right
L1705Pharmful0.98harmful★★↗Not measured✓ right
G1706Aunsure0.49harmless★★★↗Not measuredAI unsure
G1706Eharmful0.98harmful★★★↗Not measured✓ right
G1706Rharmful0.99harmful★★↗Not measured✓ right
A1708Eharmful0.97harmful★★★↗Not measured✓ right
V1713Aharmful0.81harmful★★★↗Not measured✓ right
V1714Fharmful0.83harmful★★★↗Not measured✓ right
V1714Gharmful0.86harmful★★↗Not measured✓ right
S1715Cunsure0.48harmful★★★↗Not measuredAI unsure
S1715Nharmful0.81harmful★★★↗Not measured✓ right
S1715Rharmful0.99harmful★★★↗Not measured✓ right
W1718Charmful0.98harmful★★↗Not measured✓ right
W1718Gharmful0.89harmful★★★↗Not measured✓ right
T1720Aharmless0.12harmless★★★↗Not measured✓ right
S1722Pharmful0.99harmful★★↗Not measured✓ right
I1723Tunsure0.45harmless★★↗Not measuredAI unsure
D1733Gharmless0.14harmless★★★↗Not measured✓ right
F1734Iharmful0.88harmful★★★↗Not measured✓ right
F1734Lharmful0.98harmful★★★↗Not measured✓ right
V1736Aharmful0.90harmful★★★↗Not measured✓ right
V1736Fharmful0.93harmful★★↗Not measured✓ right
V1736Gharmful0.88harmful★★↗Not measured✓ right
G1738Eharmful0.98harmful★★↗Not measured✓ right
G1738Rharmful0.99harmful★★★↗Not measured✓ right
D1739Gharmful0.98harmful★★↗Not measured✓ right
D1739Vharmful0.98harmful★★↗Not measured✓ right
D1739Yharmful0.95harmful★★↗Not measured✓ right
G1743Eharmful0.92harmful★★↗Not measured✓ right
H1746Dharmful0.95harmful★★★↗Not measured✓ right
G1748Charmful0.94harmful★★★↗Not measured✓ right
G1748Dharmful0.97harmful★★↗Not measured✓ right
G1748Rharmful0.99harmful★★↗Not measured✓ right
R1751Pharmful0.97harmful★★★↗Not measured✓ right
R1751Qharmless0.18harmless★★★↗Not measured✓ right
A1752Pharmful0.97harmful★★↗Not measured✓ right
R1753Gharmful0.92harmful★★★↗Not measured✓ right
F1761Charmful0.93harmful★★★↗Not measured✓ right
F1761Sharmful0.98harmful★★★↗Not measured✓ right
L1764Pharmful0.92harmful★★★↗Not measured✓ right
I1766Nharmful0.94harmful★★↗Not measured✓ right
I1766Sharmful0.93harmful★★★↗Not measured✓ right
G1770Vharmful0.79harmful★★★↗Not measured✓ right
M1775Kharmful0.88harmful★★★↗Not measured✓ right
M1775Rharmful0.89harmful★★★↗Not measured✓ right
D1778Nharmless0.12harmful★★★↗Not measured✗ missed it
L1780Pharmful0.99harmful★★↗Not measured✓ right
L1780Rharmful0.94harmful★★★↗Not measured✓ right
L1786Pharmful0.96harmful★★★↗Not measured✓ right
C1787Yharmful0.94harmful★★↗Not measured✓ right
G1788Charmful0.84harmful★★↗Not measured✓ right
G1788Vharmful0.92harmful★★★↗Not measured✓ right
A1789Tharmful0.70harmful★★★↗Not measured✓ right
G1803Aharmless0.09harmful★★↗Not measured✗ missed it
V1804Dharmless0.11harmless★★★↗Not measured✓ right
V1809Fharmful0.83harmful★★★↗Not measured✓ right
Q1811Rharmful0.84harmful★★↗Not measured✓ right
P1812Aharmless0.17harmful★★↗Not measured✗ missed it
D1818Gharmless0.08harmful★★↗Not measured✗ missed it
N1819Sharmless0.06harmless★★↗Not measured✓ right
A1823Sharmless0.10harmful★★↗Not measured✗ missed it
A1823Tharmless0.08harmful★★↗Not measured✗ missed it
V1833Mharmful0.66harmful★★↗Not measured✓ right
W1837Charmful0.99harmful★★↗Not measured✓ right
W1837Gharmful0.91harmful★★★↗Not measured✓ right
W1837Rharmful1.00harmful★★★↗Not measured✓ right
V1838Eharmful0.97harmful★★★↗Not measured✓ right
L1839Sharmful0.94harmful★★★↗Not measured✓ right
S1841Iharmful0.95harmful★★↗Not measured✓ right
S1841Rharmful1.00harmful★★↗Not measured✓ right
A1843Pharmful0.96harmful★★↗Not measured✓ right
L1844Rharmless0.21harmless★★★↗Not measured✓ right
Y1853Charmful0.70harmful★★↗Not measured✓ right
Y1853Nharmful0.86harmful★★↗Not measured✓ right
L1854Pharmful0.87harmful★★★↗Not measured✓ right
P1856Sharmless0.10harmless★★↗Not measured✓ right
I1858Lharmless0.09harmless★★★↗Not measured✓ right
P1859Rharmless0.09harmless★★★↗Not measured✓ right
H1862Lharmless0.09harmless★★↗Not measured✓ right
332 variants · “harmful” = disease-causing, “harmless” = benign. Use arrow keys to move between rows and Enter to select one.