W41R (p.Trp41Arg) variant of DSG1 (Desmoglein-1)
W41R (p.Trp41Arg) in DSG1 (Desmoglein-1) 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 0.46 / 1. The record also includes population frequency data and structural context.
W41R (p.Trp41Arg) variant details
- p.Trp41Arg
- gnomAD rs1367270720
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.39
- MetaLR 0.27
- MetaSVM -0.65
- CADD 26.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available