E3D (p.Glu3Asp) variant of RYR3 (Ryanodine receptor 3)
E3D (p.Glu3Asp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- ESP rs372728963
- ExAC rs372728963
- TOPMed rs372728963
- gnomAD rs372728963
- Missense
- MetaLR 0.80
- MetaSVM 0.21
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.35
- Population evidence available