D53V (p.Asp53Val) variant of HLA-C (P10321)
D53V (p.Asp53Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- Ensembl rs281860348
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.35
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available