Q72E (p.Gln72Glu) variant of RYR3 (Ryanodine receptor 3)
Q72E (p.Gln72Glu) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
Q72E (p.Gln72Glu) variant details
- p.Gln72Glu
- ExAC rs751801822
- TOPMed rs751801822
- gnomAD rs751801822
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)