L3935F (p.Leu3935Phe) variant of RYR2 (Ryanodine receptor 2)
L3935F (p.Leu3935Phe) 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; Ventricular arrhythmias. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L3935F (p.Leu3935Phe) variant details
- p.Leu3935Phe
- rs2527697526
- ClinGen CA345409132
- ClinVar RCV003148098
- ClinVar RCV003148099
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.84
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1; Ventric)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)