C3S (p.Cys3Ser) variant of KRT9 (Keratin, type I cytoskeletal 9)
C3S (p.Cys3Ser) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C3S (p.Cys3Ser) variant details
- p.Cys3Ser
- ExAC rs764394233
- gnomAD rs764394233
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.27
- CADD 16.80
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available