G42* (p.Gly42Ter) variant of HLA-C (P10321)
G42* (p.Gly42Ter) in HLA-C (P10321) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G42* (p.Gly42Ter) variant details
- p.Gly42Ter
- cosmic curated COSV66115
- ExAC rs281860338
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 40.00
- Population evidence available
- Structural context available