T103K (p.Thr103Lys) variant of BRD4 (Bromodomain-containing protein 4)
T103K (p.Thr103Lys) 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 0.49 / 1. The record also includes population frequency data and structural context.
T103K (p.Thr103Lys) variant details
- p.Thr103Lys
- ESP rs200203571
- ExAC rs200203571
- TOPMed rs200203571
- gnomAD rs200203571
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- MetaLR 0.02
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.30
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available