Y40* (p.Tyr40Ter) variant of BRD2 (Bromodomain-containing protein 2)
Y40* (p.Tyr40Ter) in BRD2 (Bromodomain-containing protein 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y40* (p.Tyr40Ter) variant details
- p.Tyr40Ter
- rs1212819054
- gnomAD 6-32969269-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 8.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available