R34C (p.Arg34Cys) variant of BRD3 (Bromodomain-containing protein 3)
R34C (p.Arg34Cys) in BRD3 (Bromodomain-containing protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- ExAC rs200112281
- TOPMed rs200112281
- gnomAD rs200112281
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.29
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00019)