F4600I (p.Phe4600Ile) variant of RYR2 (Ryanodine receptor 2)
F4600I (p.Phe4600Ile) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F4600I (p.Phe4600Ile) variant details
- p.Phe4600Ile
- rs2149388042
- ClinGen CA345418011
- ClinVar RCV003526316
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.82
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 0.24
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)