L390P (p.Leu390Pro) variant of SCN1A (Nav1.1)
L390P (p.Leu390Pro) 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 Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
L390P (p.Leu390Pro) variant details
- p.Leu390Pro
- rs746413385
- ClinGen CA349071063
- ClinVar RCV004546642
- ClinVar RCV006466727
- Pathogenic/Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.58
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 0.44
- SIFT 0.09
- EVE 0.30
- ClinVar: Pathogenic/Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Migrain)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)