K34E (p.Lys34Glu) variant of RYR2 (Ryanodine receptor 2)
K34E (p.Lys34Glu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- rs876661385
- ClinGen CA345654371
- ClinVar RCV002547040
- Ensembl rs876661385
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.74
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 0.98
- SIFT 0.12
- MutPred 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)