R89K (p.Arg89Lys) variant of BRD3 (Bromodomain-containing protein 3)
R89K (p.Arg89Lys) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R89K (p.Arg89Lys) variant details
- p.Arg89Lys
- NCI-TCGA TCGA novel
- ExAC rs758093548
- TOPMed rs758093548
- gnomAD rs758093548
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.27
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 2.5e-05)