E1218K (p.Glu1218Lys) variant of SCN8A (Nav1.6)
E1218K (p.Glu1218Lys) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
E1218K (p.Glu1218Lys) variant details
- p.Glu1218Lys
- rs1555226823
- ClinGen CA384898686
- cosmic curated COSV61979
- ClinVar RCV000766192
- Pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loss-of-function variants of SCN8A in intellectual disability without seizures. (PMID 28702509)