V18L (p.Val18Leu) variant of DSG1 (Desmoglein-1)
V18L (p.Val18Leu) 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.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- gnomAD 18-31326584-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.00
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available