A1429V (p.Ala1429Val) variant of SCN1A (Nav1.1)
A1429V (p.Ala1429Val) 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 0.83 / 1. The record also includes population frequency data and structural context.
A1429V (p.Ala1429Val) variant details
- p.Ala1429Val
- rs2105487145
- ClinGen CA349049642
- ClinVar RCV006468357
- Ensembl rs2105487145
- Pathogenic/Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Migraine, familial hemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Migrain)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Population evidence available
- Structural context available