R7Q (p.Arg7Gln) variant of HLA-A (P04439)
R7Q (p.Arg7Gln) in HLA-A (P04439) 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 0.32 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- NCI-TCGA Cosmic COSV6514
- cosmic curated COSV65145
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.13
- CADD 21.30
- PolyPhen-2 0.99
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available