A5V (p.Ala5Val) variant of HLA-A (P04439)
A5V (p.Ala5Val) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- ExAC rs755858715
- gnomAD rs755858715
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.21
- CADD 8.71
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00027)
- Structural context available