M785V (p.Met785Val) variant of SCN1A (Nav1.1)
M785V (p.Met785Val) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; Se. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M785V (p.Met785Val) variant details
- p.Met785Val
- rs767045134
- ClinGen CA303300
- ClinVar RCV000180869
- ClinVar RCV005243144
- Pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; Se
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)