S54Y (p.Ser54Tyr) variant of KRT16 (Keratin, type I cytoskeletal 16)
S54Y (p.Ser54Tyr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S54Y (p.Ser54Tyr) variant details
- p.Ser54Tyr
- gnomAD rs1385661935
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available