Q11H (p.Gln11His) variant of RYR1 (Ryanodine receptor 1)
Q11H (p.Gln11His) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
Q11H (p.Gln11His) variant details
- p.Gln11His
- gnomAD rs1600608864
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign