V52L (p.Val52Leu) variant of HLA-B (P01889)
V52L (p.Val52Leu) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- ExAC rs281864591
- gnomAD rs281864591
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available