V94A (p.Val94Ala) variant of CASQ2 (Calsequestrin-2)
V94A (p.Val94Ala) 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; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- rs755766840
- ClinGen CA1023959
- ClinVar RCV002562753
- ClinVar RCV003339842
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.53
- MetaLR 0.24
- MetaSVM -0.68
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Cardiov)
- 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)