V887L (p.Val887Leu) variant of SCN2A (Nav1.2)
V887L (p.Val887Leu) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
V887L (p.Val887Leu) variant details
- p.Val887Leu
- rs1574641605
- cosmic curated COSV51832
- ClinGen CA349014235
- ClinVar RCV000986854
- Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)