S35Y (p.Ser35Tyr) variant of KRT8 (Keratin, type II cytoskeletal 8)
S35Y (p.Ser35Tyr) in KRT8 (Keratin, type II cytoskeletal 8) 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.
S35Y (p.Ser35Tyr) variant details
- p.Ser35Tyr
- ExAC rs748998235
- gnomAD rs748998235
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available