E26* (p.Glu26Ter) variant of SCN1A (P35498)
E26* (p.Glu26Ter) in SCN1A (P35498) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- rs76921794
- ClinGen CA60270532
- ClinVar RCV005253949
- ClinVar RCV006468550
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)