E60A (p.Glu60Ala) variant of DSG1 (Desmoglein-1)
E60A (p.Glu60Ala) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E60A (p.Glu60Ala) variant details
- p.Glu60Ala
- gnomAD 18-31326968-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.85
- MetaLR 0.67
- MetaSVM 0.51
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available