L43R (p.Leu43Arg) variant of RYR3 (Ryanodine receptor 3)
L43R (p.Leu43Arg) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L43R (p.Leu43Arg) variant details
- p.Leu43Arg
- gnomAD 15-33473495-T-G
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available