E3* (p.Glu3Ter) variant of RYR3 (Ryanodine receptor 3)
E3* (p.Glu3Ter) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 15-33311052-G-T
- Stop Gained
- CADD 43.00
- Population evidence available
- Literature evidence available