R10Q (p.Arg10Gln) variant of KRT5 (Keratin, type II cytoskeletal 5)
R10Q (p.Arg10Gln) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.23 / 1. The record also includes population frequency data and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs753298083
- NCI-TCGA Cosmic COSV5285
- ExAC rs753298083
- TOPMed rs753298083
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available