R2H (p.Arg2His) variant of HLA-DPA1 (P20036)
R2H (p.Arg2His) in HLA-DPA1 (P20036) 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 0.08 / 1. The record also includes population frequency data and structural context.
R2H (p.Arg2His) variant details
- p.Arg2His
- rs761093053
- NCI-TCGA Cosmic COSV6982
- ExAC rs761093053
- TOPMed rs761093053
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0756
- REVEL 0.03
- MetaLR 0.00
- MetaSVM -0.91
- CADD 3.33
- PolyPhen-2 0.00
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available