A125V (p.Ala125Val) variant of ETFA (P13804)
A125V (p.Ala125Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- Ensembl rs77780757
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.71
- Structural context available