Q22* (p.Gln22Ter) variant of RYR1 (Ryanodine receptor 1)
Q22* (p.Gln22Ter) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- gnomAD 19-38440763-C-T
- Stop Gained
- CADD 39.00
- Population evidence available
- Literature evidence available