H8P (p.His8Pro) variant of BRD2 (Bromodomain-containing protein 2)
H8P (p.His8Pro) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H8P (p.His8Pro) variant details
- p.His8Pro
- 1000Genomes rs201319601
- ExAC rs201319601
- TOPMed rs201319601
- gnomAD rs201319601
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.16
- CADD 22.00
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available