G33R (p.Gly33Arg) variant of BRD3 (Bromodomain-containing protein 3)
G33R (p.Gly33Arg) in BRD3 (Bromodomain-containing protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs201114126
- ClinGen CA5317079
- ClinVar RCV004107671
- ExAC rs201114126
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)