E30G (p.Glu30Gly) variant of RYR1 (Ryanodine receptor 1)
E30G (p.Glu30Gly) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- ESP rs145771708
- ExAC rs145771708
- TOPMed rs145771708
- gnomAD rs145771708
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign