C50* (p.Cys50Ter) variant of PBRM1 (Protein polybromo-1)
C50* (p.Cys50Ter) in PBRM1 (Protein polybromo-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C50* (p.Cys50Ter) variant details
- p.Cys50Ter
- cosmic curated COSV56280
- Ensembl rs2154058542
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 34.00
- Population evidence available
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.427