M1354V (p.Met1354Val) variant of SCN2A (Nav1.2)
M1354V (p.Met1354Val) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M1354V (p.Met1354Val) variant details
- p.Met1354Val
- rs1701224136
- ClinGen CA349030560
- cosmic curated COSV51835
- ClinVar RCV001057673
- Conflicting interpretations
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.00
- ClinVar: Conflicting classifications of pathogenicity (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)