D9G (p.Asp9Gly) variant of RYR2 (Ryanodine receptor 2)
D9G (p.Asp9Gly) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- gnomAD 1-237042547-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.67
- MetaLR 0.86
- MetaSVM 0.82
- CADD 26.10
- PolyPhen-2 0.48
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available