S28Y (p.Ser28Tyr) variant of KRT14 (Keratin, type I cytoskeletal 14)
S28Y (p.Ser28Tyr) in KRT14 (Keratin, type I cytoskeletal 14) 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.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- 1000Genomes rs538124790
- ExAC rs538124790
- TOPMed rs538124790
- gnomAD rs538124790
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.56
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.07
- Most common in the 1KG:PJL population (allele frequency 0.01)
- Structural context available