I14I (p.Ile14Ile) variant of DSG1 (Desmoglein-1)
I14I (p.Ile14Ile) in DSG1 (Desmoglein-1) is a synonymous 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.
I14I (p.Ile14Ile) variant details
- p.Ile14Ile
- gnomAD 18-31318342-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 9.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available