G22A (p.Gly22Ala) variant of CASQ2 (Calsequestrin-2)
G22A (p.Gly22Ala) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- ESP rs140238747
- ExAC rs140238747
- gnomAD rs140238747
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.74
- MetaLR 0.57
- MetaSVM -0.11
- CADD 24.20
- PolyPhen-2 0.63
- SIFT 0.02
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available