A96T (p.Ala96Thr) variant of CASQ2 (Calsequestrin-2)
A96T (p.Ala96Thr) 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 0.28 / 1. The record also includes published literature and structural context.
A96T (p.Ala96Thr) variant details
- p.Ala96Thr
- rs2101100994
- ClinGen CA341765375
- ClinVar RCV002550991
- Ensembl rs2101100994
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.09
- SIFT 0.58
- EVE 0.13
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- 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)