A2D (p.Ala2Asp) variant of RYR2 (Ryanodine receptor 2)
A2D (p.Ala2Asp) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 1-237042526-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.52
- MetaLR 0.84
- MetaSVM 0.83
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available