Y58* (p.Tyr58Ter) variant of RYR3 (Ryanodine receptor 3)
Y58* (p.Tyr58Ter) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
Y58* (p.Tyr58Ter) variant details
- p.Tyr58Ter
- gnomAD 15-33503633-C-A
- Stop Gained
- CADD 35.00
- Population evidence available
- Literature evidence available