E44* (p.Glu44Ter) variant of SCN9A (Q15858)
E44* (p.Glu44Ter) in SCN9A (Q15858) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- ExAC rs757848676
- gnomAD rs757848676
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available