E43V (p.Glu43Val) variant of HLA-C (P10321)
E43V (p.Glu43Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E43V (p.Glu43Val) variant details
- p.Glu43Val
- Ensembl rs281860339
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available