F43C (p.Phe43Cys) variant of BRD2 (Bromodomain-containing protein 2)
F43C (p.Phe43Cys) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F43C (p.Phe43Cys) variant details
- p.Phe43Cys
- rs1392838016
- gnomAD 6-32971597-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available