L1650I (p.Leu1650Ile) variant of SCN2A (Nav1.2)
L1650I (p.Leu1650Ile) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy; West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
L1650I (p.Leu1650Ile) variant details
- p.Leu1650Ile
- rs1702008323
- ClinGen CA349037847
- ClinVar RCV001847359
- Ensembl rs1702008323
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available