D31D (p.Asp31Asp) variant of DSG1 (Desmoglein-1)
D31D (p.Asp31Asp) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D31D (p.Asp31Asp) variant details
- p.Asp31Asp
- gnomAD 18-31326882-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available