G50D (p.Gly50Asp) variant of HLA-B (P01889)
G50D (p.Gly50Asp) in HLA-B (P01889) 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 0.41 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- rs281864589
- NCI-TCGA Cosmic COSV6952
- cosmic curated COSV69520
- ExAC rs281864589
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.32
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available