V7M (p.Val7Met) variant of COL7A1 (Collagen alpha-1(VII) chain)
V7M (p.Val7Met) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
V7M (p.Val7Met) variant details
- p.Val7Met
- ExAC rs771825646
- gnomAD rs771825646
- Missense
- CADD 12.10
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available