E39Q (p.Glu39Gln) variant of CASQ2 (Calsequestrin-2)
E39Q (p.Glu39Gln) 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 2; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- rs756636650
- ClinGen CA341767233
- ClinVar RCV003066924
- ClinVar RCV003171055
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.02
- PolyPhen-2 0.09
- SIFT 0.26
- EVE 0.10
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Cardiov)
- 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)