M1879T (p.Met1879Thr) variant of SCN2A (Nav1.2)
M1879T (p.Met1879Thr) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M1879T (p.Met1879Thr) variant details
- p.Met1879Thr
- rs2105403536
- ClinGen CA349039608
- ClinVar RCV001974057
- ClinVar RCV002283575
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)