G127D (p.Gly127Asp) variant of CASQ2 (Calsequestrin-2)
G127D (p.Gly127Asp) 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 0.60 / 1. The record also includes population frequency data and structural context.
G127D (p.Gly127Asp) variant details
- p.Gly127Asp
- ExAC rs761169437
- TOPMed rs761169437
- gnomAD rs761169437
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.54
- MetaLR 0.41
- MetaSVM -0.16
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available