V1637E (p.Val1637Glu) variant of SCN1A (Nav1.1)
V1637E (p.Val1637Glu) 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 0.93 / 1. The record also includes published literature and structural context.
V1637E (p.Val1637Glu) variant details
- p.Val1637Glu
- rs121918810
- ClinGen CA219781
- ClinVar RCV000059519
- UniProt VAR 064268
- Likely pathogenic
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Severe myoclonic epilepsy in infancy)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation. (PMID 20392657)
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)