D19R (p.Asp19Arg) variant of RYR3 (Ryanodine receptor 3)
D19R (p.Asp19Arg) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
D19R (p.Asp19Arg) variant details
- p.Asp19Arg
- gnomAD 15-33473421-G-GA
- Frameshift
- CADD 32.00
- Population evidence available
- Literature evidence available