N117S (p.Asn117Ser) variant of BRD4 (Bromodomain-containing protein 4)
N117S (p.Asn117Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N117S (p.Asn117Ser) variant details
- p.Asn117Ser
- rs772991598
- ClinGen CA9265657
- cosmic curated COSV54588
- ClinVar RCV002684272
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.07
- MetaSVM -1.00
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- 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)