G114R (p.Gly114Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G114R (p.Gly114Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
G114R (p.Gly114Arg) variant details
- p.Gly114Arg
- TOPMed rs1177024674
- gnomAD rs1177024674
- Missense
- CADD 22.00
- Population evidence available