A343P (p.Ala343Pro) variant of KCNQ2 (O43526)
A343P (p.Ala343Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 1. The record also includes published literature and structural context.
A343P (p.Ala343Pro) variant details
- p.Ala343Pro
- rs2516364978
- ClinGen CA409651299
- ClinVar RCV002290088
- Likely pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)