S58Y (p.Ser58Tyr) variant of KRT16 (Keratin, type I cytoskeletal 16)
S58Y (p.Ser58Tyr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S58Y (p.Ser58Tyr) variant details
- p.Ser58Tyr
- ExAC rs775300928
- TOPMed rs775300928
- gnomAD rs775300928
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available