D63G (p.Asp63Gly) variant of DSG1 (Desmoglein-1)
D63G (p.Asp63Gly) 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, published literature, and structural context.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- gnomAD 18-31326977-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.38
- MetaLR 0.33
- MetaSVM -0.38
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available