R2W (p.Arg2Trp) variant of HLA-C (P10321)
R2W (p.Arg2Trp) 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 0.13 / 1. The record also includes population frequency data and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- NCI-TCGA TCGA novel
- Ensembl rs2113916885
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.12
- CADD 12.10
- PolyPhen-2 0.56
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.4e-06)
- Structural context available