E46Q (p.Glu46Gln) variant of KCNQ2 (O43526)
E46Q (p.Glu46Gln) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The record also includes structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- rs2516745443
- ClinGen CA409635529
- ClinVar RCV006560434
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available