A78T (p.Ala78Thr) variant of RYR3 (Ryanodine receptor 3)
A78T (p.Ala78Thr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- gnomAD 15-33503691-G-A
- Missense
- MetaLR 0.98
- MetaSVM 1.09
- CADD 28.20
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Literature evidence available