Q72R (p.Gln72Arg) variant of RYR3 (Ryanodine receptor 3)
Q72R (p.Gln72Arg) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- gnomAD 15-33503674-A-G
- Missense
- MetaLR 0.95
- MetaSVM 1.06
- CADD 24.00
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Literature evidence available