E52* (p.Glu52Ter) variant of PBRM1 (Protein polybromo-1)
E52* (p.Glu52Ter) in PBRM1 (Protein polybromo-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- cosmic curated COSV56287
- Ensembl rs2097152366
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- Population evidence available
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.0907