E10Q (p.Glu10Gln) variant of RYR2 (Ryanodine receptor 2)
E10Q (p.Glu10Gln) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- gnomAD 1-237042549-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.61
- MetaLR 0.92
- MetaSVM 0.91
- CADD 25.30
- PolyPhen-2 0.71
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available