V52L (p.Val52Leu) variant of HLA-C (P10321)
V52L (p.Val52Leu) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- gnomAD rs41561612
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.17
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available