A71V (p.Ala71Val) variant of ETFA (P13804)
A71V (p.Ala71Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- ExAC rs777327098
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available