S979N (p.Ser979Asn) variant of SCN8A (Nav1.6)
S979N (p.Ser979Asn) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myoclonus, familial, 2; Developmental and epileptic encephalopathy, 13; Cognitiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
S979N (p.Ser979Asn) variant details
- p.Ser979Asn
- rs2540265567
- ClinGen CA2582341785
- ClinVar RCV003333511
- ClinVar RCV003333512
- Likely pathogenic
- Myoclonus, familial, 2; Developmental and epileptic encephalopathy, 13; Cognitiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.92
- ClinVar: Likely pathogenic (Myoclonus, familial, 2; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)