E40* (p.Glu40Ter) variant of SCN2A (Q99250)
E40* (p.Glu40Ter) in SCN2A (Q99250) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- Ensembl rs1553564192
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available