I419F (p.Ile419Phe) variant of RYR2 (Ryanodine receptor 2)
I419F (p.Ile419Phe) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I419F (p.Ile419Phe) variant details
- p.Ile419Phe
- rs1349176732
- UniProt VAR 044089
- Ensembl rs1349176732
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. (PMID 15466642)
- Cited in: Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred… (PMID 16188589)