E10* (p.Glu10Ter) variant of RYR2 (Ryanodine receptor 2)
E10* (p.Glu10Ter) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- rs2148061633
- ClinGen CA345654197
- ClinVar RCV002224709
- Ensembl rs2148061633
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available