S39F (p.Ser39Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
S39F (p.Ser39Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- ExAC rs764050721
- TOPMed rs764050721
- gnomAD rs764050721
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.55
- CADD 24.30
- PolyPhen-2 0.82
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available