G1715V (p.Gly1715Val) variant of SCN2A (Nav1.2)
G1715V (p.Gly1715Val) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G1715V (p.Gly1715Val) variant details
- p.Gly1715Val
- rs1702015681
- ClinGen CA349038304
- ClinVar RCV001847345
- TOPMed rs1702015681
- Pathogenic
- West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available