I52I (p.Ile52Ile) variant of DSG1 (Desmoglein-1)
I52I (p.Ile52Ile) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I52I (p.Ile52Ile) variant details
- p.Ile52Ile
- gnomAD 18-31326945-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 11.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available