D18Y (p.Asp18Tyr) variant of RYR2 (Ryanodine receptor 2)
D18Y (p.Asp18Tyr) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- gnomAD 1-237270500-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- MetaLR 0.92
- MetaSVM 1.02
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available