S5N (p.Ser5Asn) variant of BRD4 (Bromodomain-containing protein 4)
S5N (p.Ser5Asn) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- ExAC rs750300459
- TOPMed rs750300459
- gnomAD rs750300459
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- MetaLR 0.07
- MetaSVM -0.99
- CADD 23.00
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.822