G7C (p.Gly7Cys) variant of RYR2 (Ryanodine receptor 2)
G7C (p.Gly7Cys) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 1-237042540-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.71
- MetaLR 0.91
- MetaSVM 0.96
- CADD 27.40
- PolyPhen-2 0.89
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available