E6G (p.Glu6Gly) variant of RYR2 (Ryanodine receptor 2)
E6G (p.Glu6Gly) 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 Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- TOPMed rs1272308393
- gnomAD rs1272308393
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.31
- MetaLR 0.69
- MetaSVM 0.04
- CADD 23.00
- PolyPhen-2 0.13
- SIFT 0.24
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available