R133Q (p.Arg133Gln) variant of KRT8 (Keratin, type II cytoskeletal 8)
R133Q (p.Arg133Gln) in KRT8 (Keratin, type II cytoskeletal 8) 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 0.55 / 1. The record also includes population frequency data.
R133Q (p.Arg133Gln) variant details
- p.Arg133Gln
- rs775752489
- cosmic curated COSV10587
- ExAC rs775752489
- gnomAD rs775752489
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)