H8Q (p.His8Gln) variant of BRD2 (Bromodomain-containing protein 2)
H8Q (p.His8Gln) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H8Q (p.His8Gln) variant details
- p.His8Gln
- 1000Genomes rs554586362
- ExAC rs554586362
- TOPMed rs554586362
- gnomAD rs554586362
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.09
- CADD 15.80
- PolyPhen-2 0.23
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available