R58* (p.Arg58Ter) variant of PBRM1 (Protein polybromo-1)
R58* (p.Arg58Ter) in PBRM1 (Protein polybromo-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R58* (p.Arg58Ter) variant details
- p.Arg58Ter
- cosmic curated COSV56265
- Ensembl rs2154058091
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PBRM1 High mobility group box domain domainome 1.0: score -0.101