A34V (p.Ala34Val) variant of ETFA (P13804)
A34V (p.Ala34Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD rs2039810717
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.26
- ESM-1b 0.55
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available