A81V (p.Ala81Val) variant of CASQ2 (Calsequestrin-2)
A81V (p.Ala81Val) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- rs1648331024
- ClinGen CA341765539
- ClinVar RCV003106201
- TOPMed rs1648331024
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.80
- MetaLR 0.60
- MetaSVM 0.02
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)