G13E (p.Gly13Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
G13E (p.Gly13Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The record also includes structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- TOPMed rs1258691411
- Missense
- Structural context available