P47A (p.Pro47Ala) variant of BRD4 (Bromodomain-containing protein 4)
P47A (p.Pro47Ala) 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.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- gnomAD rs1301560534
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.10
- MetaSVM -1.10
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.718