I28M (p.Ile28Met) variant of RYR2 (Ryanodine receptor 2)
I28M (p.Ile28Met) 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 Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- rs1444362826
- ClinGen CA345654332
- ClinVar RCV003877008
- TOPMed rs1444362826
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.08
- MetaLR 0.86
- MetaSVM 0.74
- PolyPhen-2 0.07
- SIFT 0.11
- MutPred 0.80
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Likely benign
- UniProt: Likely benign
- 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)