G4E (p.Gly4Glu) variant of RYR2 (Ryanodine receptor 2)
G4E (p.Gly4Glu) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- gnomAD 1-237042532-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.31
- MetaLR 0.77
- MetaSVM 0.36
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available