I41V (p.Ile41Val) variant of ETFA (P13804)
I41V (p.Ile41Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- ExAC rs779892899
- gnomAD rs779892899
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available