S62F (p.Ser62Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
S62F (p.Ser62Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S62F (p.Ser62Phe) variant details
- p.Ser62Phe
- TOPMed rs1939959701
- gnomAD rs1939959701
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.25
- CADD 19.70
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available