Q246R (p.Gln246Arg) variant of SCN8A (Nav1.6)
Q246R (p.Gln246Arg) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.90 / 1. The record also includes published literature and structural context.
Q246R (p.Gln246Arg) variant details
- p.Gln246Arg
- rs2540172670
- ClinGen CA385226410
- ClinVar RCV003323268
- Likely pathogenic
- Cognitive impairment with or without cerebellar ataxia; Developmental and epilep
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- ESM-1b 1.00
- AlphaMissense 0.78
- ClinVar: Likely pathogenic (Cognitive impairment with or without cerebellar ataxia; Developm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)