S34F (p.Ser34Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
S34F (p.Ser34Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- TOPMed rs1433136873
- gnomAD rs1433136873
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.52
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available