R850Q (p.Arg850Gln) variant of SCN8A (Nav1.6)
R850Q (p.Arg850Gln) 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 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
R850Q (p.Arg850Gln) variant details
- p.Arg850Gln
- rs587780586
- ClinGen CA163107
- ClinVar RCV000122729
- ClinVar RCV000189267
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 13; Cognitive impairment with or wit
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.94
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 13; Cognitive impair)
- EBI: Pathogenic (in DEE13)
- UniProt: Pathogenic (in DEE13)
- Population evidence available
- Structural context available
- Cited in: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. (PMID 25785782)
- Cited in: SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. (PMID 28923014)