V1601L (p.Val1601Leu) variant of SCN2A (Nav1.2)
V1601L (p.Val1601Leu) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
V1601L (p.Val1601Leu) variant details
- p.Val1601Leu
- rs1553463140
- ClinGen CA349036915
- ClinVar RCV000662338
- ClinVar RCV001265501
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)