Y51H (p.Tyr51His) variant of KCNJ10 (P78508)
Y51H (p.Tyr51His) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome.
Y51H (p.Tyr51His) variant details
- p.Tyr51His
- rs2525431163
- ClinGen CA343229917
- ClinVar RCV003065207
- Uncertain significance
- EAST syndrome
- Missense
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance