A2T (p.Ala2Thr) variant of RYR3 (Ryanodine receptor 3)
A2T (p.Ala2Thr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 15-33311049-G-A
- Missense
- MetaLR 0.92
- MetaSVM 0.38
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.09
- Population evidence available
- Literature evidence available