R856Q (p.Arg856Gln) variant of SCN2A (Nav1.2)
R856Q (p.Arg856Gln) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SCN2A-related disorder; Seizures, benign familial infantile, 3; Developmental an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R856Q (p.Arg856Gln) variant details
- p.Arg856Gln
- rs797045942
- ClinGen CA207842
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51842
- Pathogenic/Likely pathogenic
- SCN2A-related disorder; Seizures, benign familial infantile, 3; Developmental an
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 29.90
- ClinVar: Pathogenic/Likely pathogenic (SCN2A-related disorder; Seizures, benign familial infantile, 3;)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)