S36F (p.Ser36Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
S36F (p.Ser36Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- TOPMed rs1176595490
- gnomAD rs1176595490
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.30
- CADD 23.00
- PolyPhen-2 0.70
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available