E43G (p.Glu43Gly) variant of KCNB1 (Q14721)
E43G (p.Glu43Gly) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epileptic encephalopathy.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- rs1568658507
- ClinGen CA408951695
- ClinVar RCV000782143
- Ensembl rs1568658507
- Likely pathogenic
- Epileptic encephalopathy
- Missense
- ClinVar: Likely pathogenic (Epileptic encephalopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic