H8L (p.His8Leu) variant of BRD2 (Bromodomain-containing protein 2)
H8L (p.His8Leu) in BRD2 (Bromodomain-containing protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H8L (p.His8Leu) variant details
- p.His8Leu
- 1000Genomes rs201319601
- ExAC rs201319601
- TOPMed rs201319601
- gnomAD rs201319601
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.20
- CADD 21.30
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available