G22D (p.Gly22Asp) variant of KCNJ10 (P78508)
G22D (p.Gly22Asp) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of EAST syndrome.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- TOPMed rs906427765
- Uncertain significance
- EAST syndrome
- Missense
- ClinVar: Uncertain significance (EAST syndrome)
- UniProt: Uncertain significance