V9A (p.Val9Ala) variant of DSG1 (Desmoglein-1)
V9A (p.Val9Ala) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- gnomAD 18-31318326-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.04
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available