C324Y (p.Cys324Tyr) variant of SCN8A (Nav1.6)
C324Y (p.Cys324Tyr) 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 Cognitive impairment with or without cerebellar ataxia; Developmental and epilep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C324Y (p.Cys324Tyr) variant details
- p.Cys324Tyr
- rs2138739035
- ClinGen CA385226962
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Pathogenic/Likely pathogenic
- Cognitive impairment with or without cerebellar ataxia; Developmental and epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cognitive impairment with or without cerebellar ataxia; Developm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)