V966L (p.Val966Leu) variant of SCN2A (Nav1.2)
V966L (p.Val966Leu) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy of infancy with migrating focal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
V966L (p.Val966Leu) variant details
- p.Val966Leu
- rs2468008587
- ClinGen CA349016544
- ClinVar RCV003155983
- Likely pathogenic
- Epilepsy of infancy with migrating focal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Epilepsy of infancy with migrating focal seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available