A2G (p.Ala2Gly) variant of RYR2 (Ryanodine receptor 2)
A2G (p.Ala2Gly) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 1-237042526-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- MetaLR 0.70
- MetaSVM 0.29
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available