S27A (p.Ser27Ala) variant of BRD4 (Bromodomain-containing protein 4)
S27A (p.Ser27Ala) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S27A (p.Ser27Ala) variant details
- p.Ser27Ala
- gnomAD rs2047606407
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- MetaLR 0.09
- MetaSVM -1.04
- CADD 24.20
- PolyPhen-2 0.68
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- BRD4 NET domain domainome 1.0: score -1.01