S51F (p.Ser51Phe) variant of BRD4 (Bromodomain-containing protein 4)
S51F (p.Ser51Phe) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S51F (p.Ser51Phe) variant details
- p.Ser51Phe
- ExAC rs750187537
- TOPMed rs750187537
- gnomAD rs750187537
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.66