Y4149C (p.Tyr4149Cys) variant of RYR2 (Ryanodine receptor 2)
Y4149C (p.Tyr4149Cys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Y4149C (p.Tyr4149Cys) variant details
- p.Tyr4149Cys
- rs1234449785
- ClinGen CA345413286
- ClinVar RCV002562806
- ClinVar RCV005405781
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)