D53E (p.Asp53Glu) variant of HLA-C (P10321)
D53E (p.Asp53Glu) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D53E (p.Asp53Glu) variant details
- p.Asp53Glu
- Ensembl rs281860349
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.23
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available