E50E (p.Glu50Glu) variant of DSG1 (Desmoglein-1)
E50E (p.Glu50Glu) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E50E (p.Glu50Glu) variant details
- p.Glu50Glu
- gnomAD 18-31326939-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.95
- Population evidence available
- Structural context available
- Literature evidence available