V18E (p.Val18Glu) variant of DSG1 (Desmoglein-1)
V18E (p.Val18Glu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V18E (p.Val18Glu) variant details
- p.Val18Glu
- gnomAD 18-31326585-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.24
- MetaLR 0.27
- MetaSVM -0.57
- CADD 24.70
- PolyPhen-2 0.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available