V40G (p.Val40Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
V40G (p.Val40Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
V40G (p.Val40Gly) variant details
- p.Val40Gly
- ExAC rs765536524
- gnomAD rs765536524
- Missense
- CADD 27.10
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)