F4612L (p.Phe4612Leu) variant of RYR2 (Ryanodine receptor 2)
F4612L (p.Phe4612Leu) 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 published literature and structural context.
F4612L (p.Phe4612Leu) variant details
- p.Phe4612Leu
- rs2149388137
- ClinGen CA345418098
- ClinVar RCV002550308
- Ensembl rs2149388137
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)