F70L (p.Phe70Leu) variant of CASQ2 (Calsequestrin-2)
F70L (p.Phe70Leu) 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 1. 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.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- rs774492523
- ClinGen CA341767009
- ClinVar RCV002548703
- ExAC rs774492523
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.16
- MetaLR 0.03
- MetaSVM -1.03
- CADD 15.40
- PolyPhen-2 0.02
- SIFT 0.82
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)