Y28C (p.Tyr28Cys) variant of CASQ2 (Calsequestrin-2)
Y28C (p.Tyr28Cys) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- rs1230753325
- ClinGen CA341767299
- ClinVar RCV002489651
- ClinVar RCV002554403
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.69
- MetaLR 0.64
- MetaSVM 0.46
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)