R61Q (p.Arg61Gln) variant of KRT2 (P35908)
R61Q (p.Arg61Gln) 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 0.22 / 1. The record also includes population frequency data and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- rs757450461
- NCI-TCGA Cosmic COSV5901
- ExAC rs757450461
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.26
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available