D53N (p.Asp53Asn) variant of HLA-C (P10321)
D53N (p.Asp53Asn) in HLA-C (P10321) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs75512631
- Ensembl rs75512631
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.25
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available