C24* (p.Cys24Ter) variant of RYR2 (Ryanodine receptor 2)
C24* (p.Cys24Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C24* (p.Cys24Ter) variant details
- p.Cys24Ter
- gnomAD 1-237270520-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available