E43* (p.Glu43Ter) variant of HLA-C (P10321)
E43* (p.Glu43Ter) in HLA-C (P10321) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- ExAC rs1050438
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 35.00
- Population evidence available
- Structural context available