L16W (p.Leu16Trp) variant of DSG1 (Desmoglein-1)
L16W (p.Leu16Trp) in DSG1 (Desmoglein-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L16W (p.Leu16Trp) variant details
- p.Leu16Trp
- gnomAD 18-31318340-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available