E54D (p.Glu54Asp) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E54D (p.Glu54Asp) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The record also includes structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- TOPMed rs867314114
- gnomAD rs867314114
- Missense
- Structural context available