E10G (p.Glu10Gly) variant of RYR2 (Ryanodine receptor 2)
E10G (p.Glu10Gly) 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 0.62 / 1. The record also includes population frequency data and structural context.
E10G (p.Glu10Gly) variant details
- p.Glu10Gly
- TOPMed rs1027423344
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.55
- AlphaMissense 0.65
- MetaLR 0.88
- MetaSVM 0.75
- CADD 27.70
- PolyPhen-2 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available