A8V (p.Ala8Val) variant of HLA-C (P10321)
A8V (p.Ala8Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- ExAC rs755610458
- TOPMed rs755610458
- gnomAD rs755610458
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available