E56K (p.Glu56Lys) variant of KCNT1 (Q5JUK3)
E56K (p.Glu56Lys) in KCNT1 (Q5JUK3) is a missense change. The record also includes population frequency data and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- TOPMed rs988103241
- gnomAD rs988103241
- Missense
- Population evidence available
- Structural context available