R937H (p.Arg937His) variant of SCN2A (Nav1.2)
R937H (p.Arg937His) 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 Episodic ataxia, type 9; Seizures, benign familial infantile, 3; Developmental a. 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.
R937H (p.Arg937His) variant details
- p.Arg937His
- rs1553579488
- ClinGen CA349015776
- NCI-TCGA Cosmic COSV5184
- cosmic curated COSV51846
- Pathogenic/Likely pathogenic
- Episodic ataxia, type 9; Seizures, benign familial infantile, 3; Developmental a
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.60
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia, type 9; Seizures, benign familial infantile, 3;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Cited in: Opposing Effects on Na(V)1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism… (PMID 28256214)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)