N52S (p.Asn52Ser) variant of BRD4 (Bromodomain-containing protein 4)
N52S (p.Asn52Ser) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- Ensembl rs202100137
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.22