R34W (p.Arg34Trp) variant of RYR3 (Ryanodine receptor 3)
R34W (p.Arg34Trp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- gnomAD rs1265670474
- Missense
- MetaLR 0.89
- MetaSVM 0.83
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the East Asian population (allele frequency 5e-05)