S59F (p.Ser59Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
S59F (p.Ser59Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S59F (p.Ser59Phe) variant details
- p.Ser59Phe
- ExAC rs751661237
- TOPMed rs751661237
- gnomAD rs751661237
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.39
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available