G40V (p.Gly40Val) variant of HLA-C (P10321)
G40V (p.Gly40Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- ExAC rs751209811
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- CADD 24.20
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available