A874T (p.Ala874Thr) variant of SCN8A (Nav1.6)
A874T (p.Ala874Thr) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 13; Cognitive impairment with or wit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
A874T (p.Ala874Thr) variant details
- p.Ala874Thr
- rs1057524820
- ClinGen CA384887219
- ClinVar RCV000585876
- ClinVar RCV002248807
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 13; Cognitive impairment with or wit
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 13; Cognitive impair)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)