E10A (p.Glu10Ala) variant of RYR2 (Ryanodine receptor 2)
E10A (p.Glu10Ala) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- rs1027423344
- ClinGen CA39930531
- ClinVar RCV002608058
- ClinVar RCV003365634
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.65
- MetaLR 0.88
- MetaSVM 0.75
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.48
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)