S92F (p.Ser92Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
S92F (p.Ser92Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S92F (p.Ser92Phe) variant details
- p.Ser92Phe
- gnomAD rs1452535421
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 13.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available