V45F (p.Val45Phe) variant of CASQ2 (Calsequestrin-2)
V45F (p.Val45Phe) 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; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V45F (p.Val45Phe) variant details
- p.Val45Phe
- rs746405346
- ClinGen CA1023997
- ClinVar RCV002571267
- ClinVar RCV005308635
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.25
- MetaLR 0.09
- MetaSVM -0.85
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)