E187* (p.Glu187Ter) variant of PBRM1 (Protein polybromo-1)
E187* (p.Glu187Ter) in PBRM1 (Protein polybromo-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E187* (p.Glu187Ter) variant details
- p.Glu187Ter
- cosmic curated COSV56287
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available