S51C (p.Ser51Cys) variant of BRD4 (Bromodomain-containing protein 4)
S51C (p.Ser51Cys) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- cosmic curated COSV54587
- ExAC rs750187537
- TOPMed rs750187537
- gnomAD rs750187537
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- MetaLR 0.06
- MetaSVM -1.12
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.04
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.66