D17G (p.Asp17Gly) variant of RYR2 (Ryanodine receptor 2)
D17G (p.Asp17Gly) in RYR2 (Ryanodine receptor 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- rs1689570949
- ClinGen CA345654258
- ClinVar RCV002647554
- TOPMed rs1689570949
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.14
- MetaLR 0.74
- MetaSVM 0.50
- PolyPhen-2 0.99
- SIFT 0.39
- MutPred 0.53
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)