A79V (p.Ala79Val) variant of ETFA (P13804)
A79V (p.Ala79Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A79V (p.Ala79Val) variant details
- p.Ala79Val
- gnomAD rs1336846665
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available