A263V (p.Ala263Val) variant of SCN2A (Nav1.2)
A263V (p.Ala263Val) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SCN2A-related disorder; Inborn genetic diseases; Seizures, benign familial infan. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
A263V (p.Ala263Val) variant details
- p.Ala263Val
- rs387906686
- ClinGen CA128711
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51834
- Pathogenic
- SCN2A-related disorder; Inborn genetic diseases; Seizures, benign familial infan
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (SCN2A-related disorder; Inborn genetic diseases; Seizures, benig)
- EBI: Pathogenic (in DEE11 and EA9)
- UniProt: Pathogenic (in DEE11 and EA9)
- Structural context available
- Cited in: SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. (PMID 20956790)
- Cited in: Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique… (PMID 23550958)