Q32R (p.Gln32Arg) variant of BRD4 (Bromodomain-containing protein 4)
Q32R (p.Gln32Arg) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- rs772517257
- ClinGen CA9265720
- ClinVar RCV002611662
- ClinVar RCV004603302
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- MetaLR 0.05
- MetaSVM -1.07
- CADD 23.20
- PolyPhen-2 0.23
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.498
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)