S58F (p.Ser58Phe) variant of KRT16 (Keratin, type I cytoskeletal 16)
S58F (p.Ser58Phe) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- ExAC rs775300928
- TOPMed rs775300928
- gnomAD rs775300928
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available