V76A (p.Val76Ala) variant of CASQ2 (Calsequestrin-2)
V76A (p.Val76Ala) 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; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V76A (p.Val76Ala) variant details
- p.Val76Ala
- rs1649199632
- ClinGen CA341766973
- ClinVar RCV003104029
- gnomAD rs1649199632
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.43
- MetaLR 0.36
- MetaSVM -0.42
- CADD 20.80
- PolyPhen-2 0.08
- SIFT 0.20
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)