G6A (p.Gly6Ala) variant of BRD4 (Bromodomain-containing protein 4)
G6A (p.Gly6Ala) 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 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- rs199609038
- ClinGen CA9265729
- ClinVar RCV003552408
- ClinVar RCV006332282
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.06
- MetaSVM -1.12
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.08
- 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 6.5e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.253
- 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)