I73I (p.Ile73Ile) variant of DSG1 (Desmoglein-1)
I73I (p.Ile73Ile) in DSG1 (Desmoglein-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I73I (p.Ile73Ile) variant details
- p.Ile73Ile
- rs781492654
- gnomAD 18-31328191-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 14.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available