F49L (p.Phe49Leu) variant of RYR3 (Ryanodine receptor 3)
F49L (p.Phe49Leu) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- gnomAD 15-33473514-C-G
- Missense
- MetaLR 0.85
- MetaSVM 0.76
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.05
- Population evidence available
- Literature evidence available