S39P (p.Ser39Pro) variant of KRT17 (Keratin, type I cytoskeletal 17)
S39P (p.Ser39Pro) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S39P (p.Ser39Pro) variant details
- p.Ser39Pro
- TOPMed rs1043719695
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.25
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available