A5V (p.Ala5Val) variant of HLA-C (P10321)
A5V (p.Ala5Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- cosmic curated COSV10971
- ExAC rs754478879
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.22
- CADD 17.80
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.4e-05)
- Structural context available