S111G (p.Ser111Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
S111G (p.Ser111Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
S111G (p.Ser111Gly) variant details
- p.Ser111Gly
- ExAC rs766852847
- gnomAD rs766852847
- Missense
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.18
- Population evidence available