G40C (p.Gly40Cys) variant of HLA-C (P10321)
G40C (p.Gly40Cys) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G40C (p.Gly40Cys) variant details
- p.Gly40Cys
- 1000Genomes rs151341100
- ESP rs151341100
- ExAC rs151341100
- gnomAD rs151341100
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.13
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available