Q33* (p.Gln33Ter) variant of RYR2 (Ryanodine receptor 2)
Q33* (p.Gln33Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- gnomAD 1-237270545-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available