E56* (p.Glu56Ter) variant of KCNT1 (Q5JUK3)
E56* (p.Glu56Ter) in KCNT1 (Q5JUK3) is a protein-truncating change. The record also includes population frequency data and structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- TOPMed rs988103241
- gnomAD rs988103241
- Stop Gained
- Population evidence available
- Structural context available