E8G (p.Glu8Gly) variant of RYR2 (Ryanodine receptor 2)
E8G (p.Glu8Gly) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E8G (p.Glu8Gly) variant details
- p.Glu8Gly
- gnomAD 1-237042544-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.58
- MetaLR 0.86
- MetaSVM 0.76
- CADD 26.10
- PolyPhen-2 0.67
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available