V892I (p.Val892Ile) variant of SCN2A (Nav1.2)
V892I (p.Val892Ile) 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; Developmental and epileptic encephalopathy, 11; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V892I (p.Val892Ile) variant details
- p.Val892Ile
- rs121917751
- ClinGen CA122770
- ClinVar RCV000013738
- ClinVar RCV000189121
- Pathogenic/Likely pathogenic
- Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 11; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.00
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia, type 9; Developmental and epileptic encephalopa)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Cited in: Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. (PMID 15048894)
- Cited in: Benign familial neonatal-infantile seizures. (PMID 6660252)