R79Q (p.Arg79Gln) variant of BCOR (BCL-6 corepressor)
R79Q (p.Arg79Gln) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R79Q (p.Arg79Gln) variant details
- p.Arg79Gln
- 1000Genomes rs746635655
- ExAC rs746635655
- gnomAD rs746635655
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the 1KG:ITU population (allele frequency 0.007)
- Structural context available