A1441V (p.Ala1441Val) variant of SCN1A (Nav1.1)
A1441V (p.Ala1441Val) 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 0.90 / 1. The record also includes published literature and structural context.
A1441V (p.Ala1441Val) variant details
- p.Ala1441Val
- rs2105486615
- ClinGen CA349049563
- ClinVar RCV004796692
- ClinVar RCV006468589
- Pathogenic/Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Migrain)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)