Y40H (p.Tyr40His) variant of BRD2 (Bromodomain-containing protein 2)
Y40H (p.Tyr40His) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Y40H (p.Tyr40His) variant details
- p.Tyr40His
- rs1358584753
- gnomAD 6-32969267-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available
- Literature evidence available