A78A (p.Ala78Ala) variant of DSG1 (Desmoglein-1)
A78A (p.Ala78Ala) 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.
A78A (p.Ala78Ala) variant details
- p.Ala78Ala
- rs780552898
- gnomAD 18-31328206-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available