V21D (p.Val21Asp) variant of RYR2 (Ryanodine receptor 2)
V21D (p.Val21Asp) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V21D (p.Val21Asp) variant details
- p.Val21Asp
- gnomAD 1-237270510-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.87
- MetaLR 0.91
- MetaSVM 0.99
- CADD 25.10
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available