Q67* (p.Gln67Ter) variant of CASQ2 (Calsequestrin-2)
Q67* (p.Gln67Ter) in CASQ2 (Calsequestrin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- rs2526105965
- ClinGen CA341767037
- ClinVar RCV002417068
- ClinVar RCV003526193
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)