L421V (p.Leu421Val) variant of SCN2A (Nav1.2)
L421V (p.Leu421Val) 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.
L421V (p.Leu421Val) variant details
- p.Leu421Val
- rs2105255913
- ClinGen CA349022235
- ClinVar RCV001847342
- Ensembl rs2105255913
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available