Q82* (p.Gln82Ter) variant of CASQ2 (Calsequestrin-2)

Name: CASQ2 Q82* (p.Gln82Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

Q82* (p.Gln82Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.

Q82* (p.Gln82Ter) variant details

p.Gln82Ter
rs2526032244
ClinGen CA341765536
ClinVar RCV003639272
NCI-TCGA TCGA novel
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.876
CADD 50.00
EBI: Pathogenic
UniProt: Pathogenic
Most common in the Non-Finnish European population (allele frequency 4.5e-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)