A2D (p.Ala2Asp) variant of RYR3 (Ryanodine receptor 3)
A2D (p.Ala2Asp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 15-33311050-C-A
- Missense
- MetaLR 0.93
- MetaSVM 0.42
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Literature evidence available