Y40L (p.Tyr40Leu) variant of BRD2 (Bromodomain-containing protein 2)
Y40L (p.Tyr40Leu) 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.
Y40L (p.Tyr40Leu) variant details
- p.Tyr40Leu
- rs771357755
- gnomAD 6-32969304-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.19
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available