R850G (p.Arg850Gly) variant of SCN8A (Nav1.6)
R850G (p.Arg850Gly) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cognitive impairment with or without cerebellar ataxia. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R850G (p.Arg850Gly) variant details
- p.Arg850Gly
- rs1555225782
- ClinGen CA384886433
- ClinVar RCV002052203
- Ensembl rs1555225782
- Pathogenic
- Cognitive impairment with or without cerebellar ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Cognitive impairment with or without cerebellar ataxia)
- EBI: Pathogenic (in DEE13)
- UniProt: Pathogenic (in DEE13)
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)