E62K (p.Glu62Lys) variant of DSG1 (Desmoglein-1)
E62K (p.Glu62Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- gnomAD 18-31326973-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.40
- MetaLR 0.33
- MetaSVM -0.35
- CADD 32.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available