K41* (p.Lys41Ter) variant of SCN1A (P35498)
K41* (p.Lys41Ter) 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 0.47 / 1. The record also includes published literature and structural context.
K41* (p.Lys41Ter) variant details
- p.Lys41Ter
- rs764444350
- ClinGen CA303232
- ClinVar RCV000180846
- ExAC rs764444350
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM -0.09
- PolyPhen-2 0.00
- SIFT 0.02
- EVE 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)