L436S (p.Leu436Ser) variant of SCN2A (Nav1.2)
L436S (p.Leu436Ser) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign familial infantile epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
L436S (p.Leu436Ser) variant details
- p.Leu436Ser
- rs1553569010
- ClinGen CA349022336
- ClinVar RCV001847371
- Ensembl rs1553569010
- Pathogenic
- Benign familial infantile epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- ESM-1b 1.00
- AlphaMissense 0.40
- ClinVar: Pathogenic (Benign familial infantile epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available