E2405K (p.Glu2405Lys) variant of RYR2 (Ryanodine receptor 2)
E2405K (p.Glu2405Lys) 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 0.88 / 1. The record also includes published literature and structural context.
E2405K (p.Glu2405Lys) variant details
- p.Glu2405Lys
- rs2148739141
- ClinGen CA345396814
- ClinVar RCV002563617
- Ensembl rs2148739141
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.77
- 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)