R1635Q (p.Arg1635Gln) variant of SCN2A (Nav1.2)
R1635Q (p.Arg1635Gln) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1635Q (p.Arg1635Gln) variant details
- p.Arg1635Gln
- rs1057520844
- ClinGen CA16603923
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51839
- Pathogenic/Likely pathogenic
- SCN2A-related disorder; Seizures, benign familial infantile, 3; Developmental an
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.90
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (SCN2A-related disorder; Seizures, benign familial infantile, 3;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)