R59S (p.Arg59Ser) variant of DSG1 (Desmoglein-1)
R59S (p.Arg59Ser) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R59S (p.Arg59Ser) variant details
- p.Arg59Ser
- TOPMed rs2071689533
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- MetaLR 0.27
- MetaSVM -0.59
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available