G22S (p.Gly22Ser) variant of KCNQ3 (O43525)
G22S (p.Gly22Ser) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The record also includes structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- rs2537398839
- ClinGen CA372292967
- ClinVar RCV003749941
- Uncertain significance
- Benign neonatal seizures
- Missense
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available