L1352P (p.Leu1352Pro) variant of SCN1A (Nav1.1)
L1352P (p.Leu1352Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe myoclonic epilepsy in infancy; Early-infantile DEE; Generalized epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L1352P (p.Leu1352Pro) variant details
- p.Leu1352Pro
- rs794726821
- ClinGen CA303491
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; Early-infantile DEE; Generalized epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; Early-infantile DEE; Gener)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)