S11C (p.Ser11Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
S11C (p.Ser11Cys) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S11C (p.Ser11Cys) variant details
- p.Ser11Cys
- TOPMed rs1908661814
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.52
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available