P23R (p.Pro23Arg) variant of BRD3 (Bromodomain-containing protein 3)
P23R (p.Pro23Arg) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- 1000Genomes rs200460874
- ExAC rs200460874
- TOPMed rs200460874
- gnomAD rs200460874
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.27
- CADD 25.00
- PolyPhen-2 0.55
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)