CFTR

A channel that moves salt (chloride) in and out of cells. When it fails, mucus turns thick and clogs the lungs and gut, causing cystic fibrosis.

AlphaMissense matched the confirmed verdict on 176 of 190 mutations (93%). It missed 11 and raised 3 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 →