A2V (p.Ala2Val) variant of RYR3 (Ryanodine receptor 3)
A2V (p.Ala2Val) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 15-33311050-C-T
- Missense
- MetaLR 0.93
- MetaSVM 0.43
- CADD 29.10
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Literature evidence available