D9E (p.Asp9Glu) variant of RYR2 (Ryanodine receptor 2)
D9E (p.Asp9Glu) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- gnomAD 1-237042548-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.38
- MetaLR 0.63
- MetaSVM -0.32
- CADD 10.30
- PolyPhen-2 0.21
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available