R3C (p.Arg3Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
R3C (p.Arg3Cys) 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 0.61 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs200156424
- NCI-TCGA Cosmic COSV5286
- ExAC rs200156424
- TOPMed rs200156424
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available