F43S (p.Phe43Ser) variant of BRD2 (Bromodomain-containing protein 2)
F43S (p.Phe43Ser) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F43S (p.Phe43Ser) variant details
- p.Phe43Ser
- rs1777984770
- gnomAD 6-32971600-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 10.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available