L84F (p.Leu84Phe) variant of CASQ2 (Calsequestrin-2)
L84F (p.Leu84Phe) 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; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
L84F (p.Leu84Phe) variant details
- p.Leu84Phe
- rs1274422352
- ClinGen CA341765524
- ClinVar RCV002553379
- TOPMed rs1274422352
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.56
- MetaLR 0.65
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.45
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)