F49I (p.Phe49Ile) variant of RYR3 (Ryanodine receptor 3)
F49I (p.Phe49Ile) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
F49I (p.Phe49Ile) variant details
- p.Phe49Ile
- gnomAD 15-33473512-T-A
- Missense
- MetaLR 0.87
- MetaSVM 0.84
- CADD 24.30
- PolyPhen-2 0.17
- SIFT 0.01
- Population evidence available
- Literature evidence available