S65C (p.Ser65Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
S65C (p.Ser65Cys) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S65C (p.Ser65Cys) variant details
- p.Ser65Cys
- TOPMed rs765464535
- gnomAD rs765464535
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.24
- CADD 17.40
- PolyPhen-2 0.24
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available