E19* (p.Glu19Ter) variant of RYR2 (Ryanodine receptor 2)
E19* (p.Glu19Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- gnomAD 1-237270503-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available