R1626H (p.Arg1626His) variant of SCN8A (Nav1.6)
R1626H (p.Arg1626His) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Developmental and epileptic encephalopathy, 13; Early-infantile DE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1626H (p.Arg1626His) variant details
- p.Arg1626His
- rs886044328
- ClinGen CA10606625
- cosmic curated COSV61990
- ClinVar RCV000378250
- Conflicting interpretations
- not provided; Developmental and epileptic encephalopathy, 13; Early-infantile DE
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Developmental and epileptic encephalopathy, 13; Ea)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)