A78G (p.Ala78Gly) variant of RYR3 (Ryanodine receptor 3)
A78G (p.Ala78Gly) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A78G (p.Ala78Gly) variant details
- p.Ala78Gly
- gnomAD 15-33503692-C-G
- Missense
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Literature evidence available