T43A (p.Thr43Ala) variant of BRD4 (Bromodomain-containing protein 4)
T43A (p.Thr43Ala) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- rs201234217
- ClinGen CA9265716
- ClinVar RCV003706849
- ExAC rs201234217
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- MetaLR 0.01
- MetaSVM -0.95
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.226