A33V (p.Ala33Val) variant of BRD4 (Bromodomain-containing protein 4)
A33V (p.Ala33Val) 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 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs201539391
- ClinGen CA305783232
- NCI-TCGA Cosmic COSV9965
- cosmic curated COSV99651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- MetaLR 0.07
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.18