R79G (p.Arg79Gly) variant of BCOR (BCL-6 corepressor)
R79G (p.Arg79Gly) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R79G (p.Arg79Gly) variant details
- p.Arg79Gly
- TOPMed rs1462787258
- gnomAD rs1462787258
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available