V34G (p.Val34Gly) variant of CASQ2 (Calsequestrin-2)
V34G (p.Val34Gly) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Catecholaminergic polymorphic ventricular tachycardia 1; Catechol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V34G (p.Val34Gly) variant details
- p.Val34Gly
- rs1280686043
- ClinGen CA341767261
- ClinVar RCV000781194
- ClinVar RCV002536870
- Uncertain significance
- not specified; Catecholaminergic polymorphic ventricular tachycardia 1; Catechol
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.81
- MetaLR 0.32
- MetaSVM -0.27
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Catecholaminergic polymorphic ventricular tachyca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)