L56* (p.Leu56Ter) variant of SCN2A (Q99250)
L56* (p.Leu56Ter) in SCN2A (Q99250) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L56* (p.Leu56Ter) variant details
- p.Leu56Ter
- rs1553564213
- ClinGen CA349010286
- ClinVar RCV001265264
- Ensembl rs1553564213
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available