E13K (p.Glu13Lys) variant of MMACHC (Q9Y4U1)
E13K (p.Glu13Lys) in MMACHC (Q9Y4U1) is a missense change. The record also includes structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- ExAC rs761257132
- TOPMed rs761257132
- gnomAD rs761257132
- Missense
- Structural context available