M1354T (p.Met1354Thr) variant of SCN2A (Nav1.2)
M1354T (p.Met1354Thr) 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 not provided; Seizures, benign familial infantile, 3; Developmental and epilepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M1354T (p.Met1354Thr) variant details
- p.Met1354Thr
- rs1553593676
- ClinGen CA349030570
- ClinVar RCV000498924
- ClinVar RCV001233360
- Pathogenic/Likely pathogenic
- not provided; Seizures, benign familial infantile, 3; Developmental and epilepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Seizures, benign familial infantile, 3; Developmen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)