M1438T (p.Met1438Thr) variant of SCN1A (Nav1.1)
M1438T (p.Met1438Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SCN1A-related disorder; Early-infantile DEE; Severe myoclonic epilepsy in infanc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
M1438T (p.Met1438Thr) variant details
- p.Met1438Thr
- rs796053010
- ClinGen CA317450
- ClinVar RCV004804286
- ClinVar RCV005868431
- Pathogenic/Likely pathogenic
- SCN1A-related disorder; Early-infantile DEE; Severe myoclonic epilepsy in infanc
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (SCN1A-related disorder; Early-infantile DEE; Severe myoclonic ep)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)