Y2392C (p.Tyr2392Cys) variant of RYR2 (Ryanodine receptor 2)
Y2392C (p.Tyr2392Cys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y2392C (p.Tyr2392Cys) variant details
- p.Tyr2392Cys
- rs772220753
- ClinGen CA087314
- cosmic curated COSV63710
- ClinVar RCV002472263
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.08
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias… (PMID 12106942)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)