M976T (p.Met976Thr) variant of SCN1A (Nav1.1)
M976T (p.Met976Thr) 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 Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
M976T (p.Met976Thr) variant details
- p.Met976Thr
- rs1057518325
- ClinGen CA16042359
- ClinVar RCV000413254
- ClinVar RCV002274024
- Pathogenic/Likely pathogenic
- Early-infantile DEE; not provided; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; not provided; Generalized epilepsy with feb)
- EBI: Pathogenic (in DRVT and GEFSP2)
- UniProt: Pathogenic (in DRVT and GEFSP2)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)