N1318S (p.Asn1318Ser) variant of SCN8A (Nav1.6)
N1318S (p.Asn1318Ser) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
N1318S (p.Asn1318Ser) variant details
- p.Asn1318Ser
- rs1592162430
- ClinGen CA384904367
- ClinVar RCV000855669
- ClinVar RCV001268825
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- ESM-1b 1.00
- AlphaMissense 0.48
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)