R226G (p.Arg226Gly) variant of SCN8A (Nav1.6)
R226G (p.Arg226Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R226G (p.Arg226Gly) variant details
- p.Arg226Gly
- rs1592380687
- ClinGen CA385224006
- ClinVar RCV000850509
- Ensembl rs1592380687
- Likely pathogenic
- Cognitive impairment with or without cerebellar ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Cognitive impairment with or without cerebellar ataxia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)