R13W (p.Arg13Trp) variant of KRT4 (Keratin, type II cytoskeletal 4)
R13W (p.Arg13Trp) 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 0.44 / 1. The record also includes population frequency data and structural context.
R13W (p.Arg13Trp) variant details
- p.Arg13Trp
- ExAC rs758581374
- TOPMed rs758581374
- gnomAD rs758581374
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.42
- CADD 23.90
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available