K255Q (p.Lys255Gln) variant of KCNQ2 (O43526)
K255Q (p.Lys255Gln) 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; Developmental and epileptic encephalopath. The record also includes published literature and structural context.
K255Q (p.Lys255Gln) variant details
- p.Lys255Gln
- rs2516447000
- ClinGen CA409653506
- ClinVar RCV004006247
- Likely pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1; Developmental and epilept)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)