T9K (p.Thr9Lys) variant of BRD4 (Bromodomain-containing protein 4)
T9K (p.Thr9Lys) 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 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T9K (p.Thr9Lys) variant details
- p.Thr9Lys
- rs921948175
- ClinGen CA305783300
- ClinVar RCV003725521
- ClinVar RCV006332328
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.07
- MetaSVM -1.11
- CADD 23.30
- PolyPhen-2 0.53
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.976
- 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)