R46Q (p.Arg46Gln) variant of KRT9 (Keratin, type I cytoskeletal 9)
R46Q (p.Arg46Gln) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.35 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs759302830
- NCI-TCGA Cosmic COSV5585
- ExAC rs759302830
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.33
- CADD 16.30
- PolyPhen-2 0.39
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available