A10V (p.Ala10Val) variant of DSG1 (Desmoglein-1)
A10V (p.Ala10Val) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 18-31318329-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.98
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available