T43I (p.Thr43Ile) variant of BRD4 (Bromodomain-containing protein 4)
T43I (p.Thr43Ile) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- ExAC rs779939979
- TOPMed rs779939979
- gnomAD rs779939979
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- MetaLR 0.03
- MetaSVM -1.04
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.226