E58V (p.Glu58Val) variant of CASQ2 (Calsequestrin-2)
E58V (p.Glu58Val) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E58V (p.Glu58Val) variant details
- p.Glu58Val
- rs764732977
- ClinGen CA1023993
- ClinVar RCV000213554
- ClinVar RCV001102445
- Uncertain significance
- Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -1.00
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Catecholaminergic polymo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- 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)