P768L (p.Pro768Leu) variant of SCN1A (Nav1.1)
P768L (p.Pro768Leu) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P768L (p.Pro768Leu) variant details
- p.Pro768Leu
- rs794726766
- ClinGen CA303333
- ClinVar RCV000180882
- ClinVar RCV003482238
- Likely pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Severe myoclonic epilepsy in infancy)
- 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)