H8R (p.His8Arg) variant of BRD2 (Bromodomain-containing protein 2)
H8R (p.His8Arg) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H8R (p.His8Arg) variant details
- p.His8Arg
- 1000Genomes rs201319601
- ExAC rs201319601
- TOPMed rs201319601
- gnomAD rs201319601
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.12
- CADD 20.20
- PolyPhen-2 0.23
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available