E9D (p.Glu9Asp) variant of RYR3 (Ryanodine receptor 3)
E9D (p.Glu9Asp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- ExAC rs753357260
- TOPMed rs753357260
- gnomAD rs753357260
- Missense
- MetaLR 0.85
- MetaSVM 0.40
- CADD 19.90
- PolyPhen-2 0.14
- SIFT 0.16
- Population evidence available