V19* (p.Val19Ter) variant of DSG1 (Desmoglein-1)
V19* (p.Val19Ter) in DSG1 (Desmoglein-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V19* (p.Val19Ter) variant details
- p.Val19Ter
- gnomAD 18-31326585-TG-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available