R33C (p.Arg33Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R33C (p.Arg33Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- ExAC rs752151347
- gnomAD rs752151347
- Missense
- CADD 28.70
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)