L108P (p.Leu108Pro) variant of SCN1A (Nav1.1)
L108P (p.Leu108Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L108P (p.Leu108Pro) variant details
- p.Leu108Pro
- rs794726793
- ClinGen CA303399
- ClinVar RCV000180910
- Ensembl rs794726793
- Pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.75
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- 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)