G8S (p.Gly8Ser) variant of RYR3 (Ryanodine receptor 3)
G8S (p.Gly8Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- gnomAD 15-33311067-G-A
- Missense
- MetaLR 0.83
- MetaSVM 0.04
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.86
- Population evidence available
- Literature evidence available