S117F (p.Ser117Phe) variant of KRT13 (Keratin, type I cytoskeletal 13)
S117F (p.Ser117Phe) 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 0.48 / 1. The record also includes population frequency data and structural context.
S117F (p.Ser117Phe) variant details
- p.Ser117Phe
- rs267604871
- NCI-TCGA Cosmic COSV5583
- cosmic curated COSV55839
- gnomAD rs267604871
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available