A10E (p.Ala10Glu) variant of BRD3 (Bromodomain-containing protein 3)
A10E (p.Ala10Glu) 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 0.27 / 1. The record also includes population frequency data.
A10E (p.Ala10Glu) variant details
- p.Ala10Glu
- ExAC rs201355820
- TOPMed rs201355820
- gnomAD rs201355820
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.20
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.0006)