N54S (p.Asn54Ser) variant of BRD4 (Bromodomain-containing protein 4)
N54S (p.Asn54Ser) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- NCI-TCGA Cosmic COSV9965
- cosmic curated COSV99651
- TOPMed rs2047604768
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- MetaLR 0.02
- MetaSVM -1.02
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.87