A56A (p.Ala56Ala) variant of DSG1 (Desmoglein-1)
A56A (p.Ala56Ala) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- gnomAD 18-31326957-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.51
- Population evidence available
- Structural context available
- Literature evidence available