C17S (p.Cys17Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
C17S (p.Cys17Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- Ensembl rs2121258326
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.12
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available