T9M (p.Thr9Met) variant of BRD4 (Bromodomain-containing protein 4)
T9M (p.Thr9Met) 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 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- NCI-TCGA Cosmic COSV5459
- cosmic curated COSV54590
- TOPMed rs921948175
- gnomAD rs921948175
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- MetaLR 0.15
- MetaSVM -0.93
- CADD 26.30
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.976