E62D (p.Glu62Asp) variant of DSG1 (Desmoglein-1)
E62D (p.Glu62Asp) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- gnomAD 18-31326975-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.26
- MetaLR 0.20
- MetaSVM -0.86
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available