S11Y (p.Ser11Tyr) variant of KRT16 (Keratin, type I cytoskeletal 16)
S11Y (p.Ser11Tyr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S11Y (p.Ser11Tyr) variant details
- p.Ser11Tyr
- TOPMed rs1908250945
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.53
- CADD 25.30
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available