S4F (p.Ser4Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
S4F (p.Ser4Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- gnomAD rs1235064745
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available