R15* (p.Arg15Ter) variant of RYR2 (Ryanodine receptor 2)
R15* (p.Arg15Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- TOPMed rs868468826
- gnomAD rs868468826
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available