V421M (p.Val421Met) variant of SCN1A (Nav1.1)
V421M (p.Val421Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
V421M (p.Val421Met) variant details
- p.Val421Met
- rs781507889
- ClinGen CA16042397
- ClinVar RCV000413776
- ClinVar RCV001328664
- Pathogenic/Likely pathogenic
- Severe myoclonic epilepsy in infancy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Severe myoclonic epilepsy in infancy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)