F4087L (p.Phe4087Leu) variant of RYR2 (Ryanodine receptor 2)
F4087L (p.Phe4087Leu) 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 0.67 / 1. The record also includes population frequency data and structural context.
F4087L (p.Phe4087Leu) variant details
- p.Phe4087Leu
- 1000Genomes rs756334345
- ExAC rs756334345
- gnomAD rs756334345
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.69
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.22
- CADD 29.90
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available