G5* (p.Gly5Ter) variant of RYR3 (Ryanodine receptor 3)
G5* (p.Gly5Ter) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
G5* (p.Gly5Ter) variant details
- p.Gly5Ter
- gnomAD 15-33311058-G-T
- Stop Gained
- CADD 40.00
- Population evidence available
- Literature evidence available