M237K (p.Met237Lys) variant of KCNQ3 (O43525)
M237K (p.Met237Lys) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign neonatal seizures. The record also includes structural context.
M237K (p.Met237Lys) variant details
- p.Met237Lys
- rs2536952593
- ClinGen CA372290798
- ClinVar RCV003044809
- Pathogenic
- Benign neonatal seizures
- Missense
- ClinVar: Pathogenic (Benign neonatal seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available