E56K (p.Glu56Lys) variant of SCN1A (Nav1.1)
E56K (p.Glu56Lys) in SCN1A (Nav1.1) is a missense change. The record also includes structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- Ensembl rs1553560788
- Missense
- Structural context available