V65L (p.Val65Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
V65L (p.Val65Leu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- ExAC rs779828119
- gnomAD rs779828119
- Missense
- CADD 23.80
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00056)