R34G (p.Arg34Gly) variant of RYR3 (Ryanodine receptor 3)
R34G (p.Arg34Gly) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- gnomAD 15-33473467-A-G
- Missense
- MetaLR 0.87
- MetaSVM 0.74
- CADD 23.00
- PolyPhen-2 0.87
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available