P46S (p.Pro46Ser) variant of BRD4 (Bromodomain-containing protein 4)
P46S (p.Pro46Ser) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- rs1331613863
- NCI-TCGA Cosmic COSV5458
- cosmic curated COSV54587
- TOPMed rs1331613863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- MetaLR 0.04
- MetaSVM -1.13
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.0521