D9Y (p.Asp9Tyr) variant of RYR2 (Ryanodine receptor 2)
D9Y (p.Asp9Tyr) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- gnomAD 1-237042546-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.76
- MetaLR 0.86
- MetaSVM 0.69
- CADD 25.30
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available