R55H (p.Arg55His) variant of COL7A1 (Collagen alpha-1(VII) chain)
R55H (p.Arg55His) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R55H (p.Arg55His) variant details
- p.Arg55His
- ExAC rs777424175
- TOPMed rs777424175
- gnomAD rs777424175
- Missense
- CADD 23.70
- PolyPhen-2 0.71
- SIFT 0.10
- Population evidence available