PAH

An enzyme that breaks down the amino acid phenylalanine. Without it, phenylalanine builds up and damages the developing brain, causing phenylketonuria (PKU).

Thin data. Only 413 disease-causing and 1 harmless variants are confirmed here. That is too few for a stable score, so treat it as a weak signal.

AlphaMissense matched the confirmed verdict on 255 of 369 mutations (69%). It missed 114 and raised 0 false alarms.

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 →