R35W (p.Arg35Trp) variant of KRT13 (Keratin, type I cytoskeletal 13)
R35W (p.Arg35Trp) in KRT13 (Keratin, type I cytoskeletal 13) 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 0.56 / 1. The record also includes population frequency data and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs762660600
- ExAC rs762660600
- TOPMed rs762660600
- gnomAD rs762660600
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.41
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available