V57F (p.Val57Phe) variant of COL7A1 (Collagen alpha-1(VII) chain)
V57F (p.Val57Phe) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
V57F (p.Val57Phe) variant details
- p.Val57Phe
- ExAC rs769398524
- gnomAD rs769398524
- Missense
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available