V9D (p.Val9Asp) variant of DSG1 (Desmoglein-1)
V9D (p.Val9Asp) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V9D (p.Val9Asp) variant details
- p.Val9Asp
- gnomAD 18-31318326-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -1.01
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available