W191G (p.Trp191Gly) variant of SCN2A (Nav1.2)
W191G (p.Trp191Gly) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Focal epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
W191G (p.Trp191Gly) variant details
- p.Trp191Gly
- rs1057519525
- ClinGen CA16044305
- ClinVar RCV000416990
- ClinVar RCV003985327
- Likely pathogenic
- Focal epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Focal epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)