A40V (p.Ala40Val) variant of BRD4 (Bromodomain-containing protein 4)
A40V (p.Ala40Val) in BRD4 (Bromodomain-containing protein 4) is a missense change. Clinical records from ClinVar, EBI, 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs866414198
- ClinGen CA305783205
- ClinVar RCV003703433
- TOPMed rs866414198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- MetaLR 0.05
- MetaSVM -1.03
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.011