T43S (p.Thr43Ser) variant of BRD4 (Bromodomain-containing protein 4)
T43S (p.Thr43Ser) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T43S (p.Thr43Ser) variant details
- p.Thr43Ser
- ExAC rs201234217
- TOPMed rs201234217
- gnomAD rs201234217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- MetaLR 0.01
- MetaSVM -0.98
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.226