R69Q (p.Arg69Gln) variant of KRT4 (Keratin, type II cytoskeletal 4)
R69Q (p.Arg69Gln) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.21 / 1. The record also includes population frequency data and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs769322571
- NCI-TCGA Cosmic COSV5340
- ExAC rs769322571
- TOPMed rs769322571
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available