E31* (p.Glu31Ter) variant of RYR2 (Ryanodine receptor 2)
E31* (p.Glu31Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- gnomAD 1-237270539-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available