S24C (p.Ser24Cys) variant of BRD4 (Bromodomain-containing protein 4)
S24C (p.Ser24Cys) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- TOPMed rs1229502583
- gnomAD rs1229502583
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.05
- MetaSVM -1.05
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score 0.14