R1639P (p.Arg1639Pro) variant of SCN1A (Nav1.1)
R1639P (p.Arg1639Pro) 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 0.93 / 1. The record also includes published literature and structural context.
R1639P (p.Arg1639Pro) variant details
- p.Arg1639Pro
- rs796053029
- ClinGen CA317553
- ClinVar RCV000188984
- ClinVar RCV004577517
- Pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- 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)