Y12N (p.Tyr12Asn) variant of CASQ2 (Calsequestrin-2)
Y12N (p.Tyr12Asn) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y12N (p.Tyr12Asn) variant details
- p.Tyr12Asn
- rs752330104
- ClinGen CA301919
- ClinVar RCV000170898
- ClinVar RCV003525868
- Uncertain significance
- not provided; Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.73
- ClinVar: Uncertain significance (not provided; Catecholaminergic polymorphic ventricular tachycar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)