Y40I (p.Tyr40Ile) variant of BRD2 (Bromodomain-containing protein 2)
Y40I (p.Tyr40Ile) in BRD2 (Bromodomain-containing protein 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Y40I (p.Tyr40Ile) variant details
- p.Tyr40Ile
- rs771357755
- gnomAD 6-32969304-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.52
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available
- Literature evidence available