F43L (p.Phe43Leu) variant of BRD2 (Bromodomain-containing protein 2)
F43L (p.Phe43Leu) in BRD2 (Bromodomain-containing protein 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- gnomAD 6-32971595-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 5.3e-06)
- Structural context available
- Literature evidence available