E430K (p.Glu430Lys) variant of SCN2A (Nav1.2)
E430K (p.Glu430Lys) 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.
E430K (p.Glu430Lys) variant details
- p.Glu430Lys
- rs1553568990
- ClinGen CA349022292
- cosmic curated COSV10462
- ClinVar RCV001847368
- Pathogenic
- Developmental and epileptic encephalopathy; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy; West syndrome)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Structural context available