V4880A (p.Val4880Ala) variant of RYR2 (Ryanodine receptor 2)
V4880A (p.Val4880Ala) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V4880A (p.Val4880Ala) variant details
- p.Val4880Ala
- rs1242723821
- UniProt VAR 044111
- Ensembl rs1242723821
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- MetaLR 0.91
- MetaSVM 0.98
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.14
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Population evidence available
- Structural context available
- Cited in: Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. (PMID 15046072)
- Cited in: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. (PMID 11157710)