E11G (p.Glu11Gly) variant of RYR3 (Ryanodine receptor 3)
E11G (p.Glu11Gly) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 15-33311077-A-G
- Missense
- MetaLR 0.96
- MetaSVM 0.84
- CADD 28.40
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Literature evidence available