D3G (p.Asp3Gly) variant of RYR2 (Ryanodine receptor 2)
D3G (p.Asp3Gly) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- gnomAD 1-237042529-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.42
- MetaLR 0.77
- MetaSVM 0.40
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available