E62D (p.Glu62Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
E62D (p.Glu62Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- TOPMed rs1314442545
- gnomAD rs1314442545
- Missense
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)