F91L (p.Phe91Leu) variant of CASQ2 (Calsequestrin-2)
F91L (p.Phe91Leu) 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; Cardiovascular phenotyp. The record also includes population frequency data and structural context.
F91L (p.Phe91Leu) variant details
- p.Phe91Leu
- TOPMed rs1648329678
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- Missense
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available