R931L (p.Arg931Leu) variant of SCN1A (Nav1.1)
R931L (p.Arg931Leu) 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; Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R931L (p.Arg931Leu) variant details
- p.Arg931Leu
- rs794726718
- ClinGen CA349061364
- ClinVar RCV001038397
- ClinVar RCV001328666
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; Developmental and epilepti)
- 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)