R7G (p.Arg7Gly) variant of HLA-A (P04439)
R7G (p.Arg7Gly) 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 0.34 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs749604425
- NCI-TCGA Cosmic COSV6513
- ExAC rs749604425
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.24
- CADD 10.60
- PolyPhen-2 1.00
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available