S65F (p.Ser65Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
S65F (p.Ser65Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. 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.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- TOPMed rs765464535
- gnomAD rs765464535
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.18
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available