G57R (p.Gly57Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
G57R (p.Gly57Arg) 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 0.43 / 1. The record also includes population frequency data and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- NCI-TCGA Cosmic COSV5340
- NCI-TCGA Cosmic COSV9954
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.36
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available