Q55* (p.Gln55Ter) variant of RYR1 (Ryanodine receptor 1)
Q55* (p.Gln55Ter) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- rs779061307
- ClinGen CA062204
- ClinVar RCV000823475
- ExAC rs779061307
- Pathogenic
- Stop Gained
- CADD 47.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)