E43Q (p.Glu43Gln) variant of HLA-C (P10321)
E43Q (p.Glu43Gln) 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.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- ExAC rs1050438
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.49
- SIFT 0.02
- Population evidence available
- Structural context available