E81* (p.Glu81Ter) variant of SCN4A (Nav1.4)
E81* (p.Glu81Ter) in SCN4A (Nav1.4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
E81* (p.Glu81Ter) variant details
- p.Glu81Ter
- 1000Genomes rs111926172
- ESP rs111926172
- ExAC rs111926172
- TOPMed rs111926172
- Benign
- Stop Gained
- EBI: Benign
- UniProt: Benign
- Structural context available