Fig. 4. AlphaMissense pathogenicity predictions for ESRP1 and ESRP2 missense variants.

ESRP1 and ESRP2 gene variants from OFC cases in the GMFK Children’s dataset and ClinVar variants associated with cleft lip and/or palate or autosomal recessive deafness were identified. Six ESRP1 and nine ESRP2 (A), (D) missense variants were analyzed using the AlphaMissense (AM) model. The tables (C), (F) show the AM-predicted pathogenicity compared to our functional test results and the AM mutation score, which is also graphed. On the left, the ESRP1 and ESRP2 AlphaFold structures (B), (E), with labeled missense mutations, color-coded with the functional results.