Q11* (p.Gln11Ter) variant of RYR1 (Ryanodine receptor 1)
Q11* (p.Gln11Ter) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- gnomAD 19-38433860-C-T
- Stop Gained
- CADD 41.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Literature evidence available