G7A (p.Gly7Ala) variant of RYR2 (Ryanodine receptor 2)
G7A (p.Gly7Ala) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- gnomAD 1-237042538-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available