G13R (p.Gly13Arg) variant of KRT2 (P35908)
G13R (p.Gly13Arg) in KRT2 (P35908) 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 0.48 / 1. The record also includes population frequency data and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs1407901940
- NCI-TCGA Cosmic COSV1005
- gnomAD rs1407901940
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.44
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available