A38E (p.Ala38Glu) variant of RYR2 (Ryanodine receptor 2)
A38E (p.Ala38Glu) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- rs1689579128
- ClinGen CA345654400
- ClinVar RCV002550176
- Ensembl rs1689579128
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- MetaLR 0.87
- MetaSVM 0.82
- CADD 24.80
- PolyPhen-2 0.53
- SIFT 0.00
- 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)