P46Q (p.Pro46Gln) variant of BRD4 (Bromodomain-containing protein 4)
P46Q (p.Pro46Gln) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P46Q (p.Pro46Gln) variant details
- p.Pro46Gln
- TOPMed rs1229253526
- gnomAD rs1229253526
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- MetaLR 0.09
- MetaSVM -1.11
- CADD 24.20
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.0521