E73* (p.Glu73Ter) variant of SCN9A (Nav1.7)
E73* (p.Glu73Ter) in SCN9A (Nav1.7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E73* (p.Glu73Ter) variant details
- p.Glu73Ter
- cosmic curated COSV57598
- gnomAD rs1409339552
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available