Q69E (p.Gln69Glu) variant of CASQ2 (Calsequestrin-2)
Q69E (p.Gln69Glu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q69E (p.Gln69Glu) variant details
- p.Gln69Glu
- rs761862949
- ClinGen CA1023989
- ClinVar RCV000800247
- ClinVar RCV003166189
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.41
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.25
- CADD 23.90
- PolyPhen-2 0.83
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia; Catechola)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)