S111T (p.Ser111Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
S111T (p.Ser111Thr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
S111T (p.Ser111Thr) variant details
- p.Ser111Thr
- TOPMed rs2045866621
- Missense
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available