A3V (p.Ala3Val) variant of BRD4 (Bromodomain-containing protein 4)
A3V (p.Ala3Val) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- TOPMed rs1324868843
- gnomAD rs1324868843
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- MetaLR 0.03
- MetaSVM -1.00
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.931