M1548T (p.Met1548Thr) variant of SCN2A (Nav1.2)
M1548T (p.Met1548Thr) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.93 / 1. The record also includes published literature and structural context.
M1548T (p.Met1548Thr) variant details
- p.Met1548Thr
- rs1057519524
- ClinGen CA16044310
- ClinVar RCV000417035
- ClinVar RCV002521495
- Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Pathogenic (in DEE11)
- UniProt: Pathogenic (in DEE11)
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. (PMID 19783390)