R35Q (p.Arg35Gln) variant of KRT13 (Keratin, type I cytoskeletal 13)
R35Q (p.Arg35Gln) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.50 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs752191840
- NCI-TCGA Cosmic COSV9987
- cosmic curated COSV99877
- ExAC rs752191840
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.37
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available