E46G (p.Glu46Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
E46G (p.Glu46Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The record also includes structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- TOPMed rs2077714794
- Missense
- Structural context available