E2G (p.Glu2Gly) variant of MMACHC (Q9Y4U1)
E2G (p.Glu2Gly) in MMACHC (Q9Y4U1) is a missense change. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- 1000Genomes rs543492649
- ExAC rs543492649
- gnomAD rs543492649
- Missense
- Population evidence available
- Structural context available