R33* (p.Arg33Ter) variant of CASQ2 (Calsequestrin-2)
R33* (p.Arg33Ter) in CASQ2 (Calsequestrin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CPVT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- rs397507556
- ClinGen CA301925
- NCI-TCGA Cosmic COSV5477
- ClinVar RCV000033942
- Pathogenic
- in CPVT2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 42.00
- EBI: Pathogenic (in CPVT2)
- UniProt: Pathogenic (in CPVT2)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- 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)