P7R (p.Pro7Arg) variant of BRD4 (Bromodomain-containing protein 4)
P7R (p.Pro7Arg) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs1415180178
- ClinGen CA404490392
- ClinVar RCV003083090
- TOPMed rs1415180178
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- MetaLR 0.19
- MetaSVM -0.81
- CADD 26.60
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.721