A40T (p.Ala40Thr) variant of BRD4 (Bromodomain-containing protein 4)
A40T (p.Ala40Thr) 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 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs768982122
- ClinGen CA9265717
- NCI-TCGA Cosmic COSV5458
- cosmic curated COSV54583
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.01
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.011