T4A (p.Thr4Ala) variant of CASQ2 (Calsequestrin-2)
T4A (p.Thr4Ala) 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 record also includes structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- TOPMed rs747077051
- gnomAD rs747077051
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available