K4674E (p.Lys4674Glu) variant of RYR2 (Ryanodine receptor 2)
K4674E (p.Lys4674Glu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Arrhythmogenic right ventricular cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
K4674E (p.Lys4674Glu) variant details
- p.Lys4674Glu
- rs2149404327
- ClinGen CA345419773
- ClinVar RCV002260442
- Ensembl rs2149404327
- Pathogenic
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.40
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 0.60
- SIFT 0.02
- EVE 0.21
- ClinVar: Pathogenic (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)