S43Y (p.Ser43Tyr) variant of KRT4 (Keratin, type II cytoskeletal 4)
S43Y (p.Ser43Tyr) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S43Y (p.Ser43Tyr) variant details
- p.Ser43Tyr
- TOPMed rs1463406402
- gnomAD rs1463406402
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.30
- CADD 22.70
- PolyPhen-2 0.96
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available