S57F (p.Ser57Phe) variant of KRT16 (Keratin, type I cytoskeletal 16)
S57F (p.Ser57Phe) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- TOPMed rs1908242150
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available