E10D (p.Glu10Asp) variant of RYR2 (Ryanodine receptor 2)
E10D (p.Glu10Asp) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- gnomAD 1-237042551-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- MetaLR 0.80
- MetaSVM 0.50
- CADD 22.70
- PolyPhen-2 0.46
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available