Q69* (p.Gln69Ter) variant of CASQ2 (Calsequestrin-2)
Q69* (p.Gln69Ter) 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 0.41 / 1. The record also includes published literature and structural context.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs761862949
- ClinGen CA341767022
- ClinVar RCV003639646
- ExAC rs761862949
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.25
- PolyPhen-2 0.83
- SIFT 0.01
- EVE 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)