P46L (p.Pro46Leu) variant of BRD4 (Bromodomain-containing protein 4)
P46L (p.Pro46Leu) in BRD4 (Bromodomain-containing protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- cosmic curated COSV10961
- TOPMed rs1229253526
- gnomAD rs1229253526
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.07
- MetaSVM -1.11
- CADD 23.30
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- BRD4 NET domain domainome 1.0: score -0.0521