F137L (p.Phe137Leu) variant of CASQ2 (Calsequestrin-2)
F137L (p.Phe137Leu) 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; Catecholaminergic polym. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F137L (p.Phe137Leu) variant details
- p.Phe137Leu
- rs762328417
- ClinGen CA1023928
- ClinVar RCV002504281
- ClinVar RCV002562537
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.45
- MetaLR 0.20
- MetaSVM -0.70
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)