W3R (p.Trp3Arg) variant of DSG1 (Desmoglein-1)
W3R (p.Trp3Arg) in DSG1 (Desmoglein-1) is a missense change. 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.
W3R (p.Trp3Arg) variant details
- p.Trp3Arg
- TOPMed rs1351444524
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- MetaLR 0.36
- MetaSVM -0.32
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available