R59L (p.Arg59Leu) variant of DSG1 (Desmoglein-1)
R59L (p.Arg59Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- gnomAD 18-31326965-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- MetaLR 0.24
- MetaSVM -0.80
- CADD 28.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available