R46K (p.Arg46Lys) variant of DSG1 (Desmoglein-1)
R46K (p.Arg46Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- gnomAD 18-31326926-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.37
- MetaLR 0.53
- MetaSVM 0.13
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available