E43D (p.Glu43Asp) variant of HLA-C (P10321)
E43D (p.Glu43Asp) 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.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- ExAC rs746351359
- gnomAD rs746351359
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.24
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available