A130V (p.Ala130Val) variant of CASQ2 (Calsequestrin-2)
A130V (p.Ala130Val) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- rs867815346
- ClinGen CA29606219
- ClinVar RCV003068593
- ClinVar RCV003294444
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.21
- MetaLR 0.15
- MetaSVM -0.95
- CADD 32.00
- PolyPhen-2 0.70
- SIFT 0.00
- 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)