S35Y (p.Ser35Tyr) variant of KRT1 (Keratin, type II cytoskeletal 1)
S35Y (p.Ser35Tyr) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S35Y (p.Ser35Tyr) variant details
- p.Ser35Tyr
- ExAC rs776371326
- gnomAD rs776371326
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.69
- SIFT 0.13
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available