R46S (p.Arg46Ser) variant of RYR3 (Ryanodine receptor 3)
R46S (p.Arg46Ser) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions.
R46S (p.Arg46Ser) variant details
- p.Arg46Ser
- ExAC rs770423247
- TOPMed rs770423247
- gnomAD rs770423247
- Uncertain significance
- Missense
- MetaLR 0.95
- MetaSVM 1.05
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance