F555L (p.Phe555Leu) variant of KCNQ2 (O43526)
F555L (p.Phe555Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1. The record also includes structural context.
F555L (p.Phe555Leu) variant details
- p.Phe555Leu
- rs372800424
- ClinGen CA409643924
- ClinVar RCV006560423
- Pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1
- Missense
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available