Q1494R (p.Gln1494Arg) variant of SCN2A (Nav1.2)
Q1494R (p.Gln1494Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
Q1494R (p.Gln1494Arg) variant details
- p.Gln1494Arg
- rs1432208282
- ClinVar RCV004566558
- ClinVar RCV005409973
- Likely pathogenic
- Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental a
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Episodic ataxia, type 9;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)