S17F (p.Ser17Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
S17F (p.Ser17Phe) in KRT17 (Keratin, type I cytoskeletal 17) 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.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- NCI-TCGA Cosmic COSV6086
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.34
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available