I70I (p.Ile70Ile) variant of DSG1 (Desmoglein-1)
I70I (p.Ile70Ile) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I70I (p.Ile70Ile) variant details
- p.Ile70Ile
- rs186238458
- gnomAD 18-31326999-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0886
- CADD 1.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available