S43F (p.Ser43Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
S43F (p.Ser43Phe) 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.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- TOPMed rs1463406402
- gnomAD rs1463406402
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available