F527L (p.Phe527Leu) variant of KCNQ2 (O43526)
F527L (p.Phe527Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1. The record also includes structural context.
F527L (p.Phe527Leu) variant details
- p.Phe527Leu
- NCI-TCGA Cosmic COSV6054
- cosmic curated COSV60544
- Pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1
- Missense
- ClinVar: Pathogenic (Early-infantile DEE)
- UniProt: Pathogenic
- Structural context available