R15C (p.Arg15Cys) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R15C (p.Arg15Cys) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.17 / 1. The record also includes population frequency data and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs772519522
- ExAC rs772519522
- TOPMed rs772519522
- gnomAD rs772519522
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- CADD 21.50
- PolyPhen-2 0.18
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available