D63E (p.Asp63Glu) variant of DSG1 (Desmoglein-1)
D63E (p.Asp63Glu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D63E (p.Asp63Glu) variant details
- p.Asp63Glu
- gnomAD 18-31326978-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.64
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available