C36* (p.Cys36Ter) variant of RYR2 (Ryanodine receptor 2)
C36* (p.Cys36Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C36* (p.Cys36Ter) variant details
- p.Cys36Ter
- gnomAD 1-237270556-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available