V4880I (p.Val4880Ile) variant of RYR2 (Ryanodine receptor 2)
V4880I (p.Val4880Ile) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V4880I (p.Val4880Ile) variant details
- p.Val4880Ile
- rs2102926494
- ClinGen CA345429420
- ClinVar RCV002562193
- Ensembl rs2102926494
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.59
- MetaLR 0.90
- MetaSVM 1.03
- CADD 28.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Population evidence available
- 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)