V261M (p.Val261Met) variant of SCN2A (Nav1.2)
V261M (p.Val261Met) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
V261M (p.Val261Met) variant details
- p.Val261Met
- rs1057520413
- ClinGen CA16604008
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51839
- Pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.11
- CADD 26.60
- ClinVar: Pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic (in BFIS3)
- UniProt: Pathogenic (in BFIS3)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. (PMID 20371507)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)