C64* (p.Cys64Ter) variant of RYR3 (Ryanodine receptor 3)
C64* (p.Cys64Ter) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
C64* (p.Cys64Ter) variant details
- p.Cys64Ter
- gnomAD 15-33503651-C-A
- Stop Gained
- CADD 34.00
- Population evidence available
- Literature evidence available