R79W (p.Arg79Trp) variant of BCOR (BCL-6 corepressor)
R79W (p.Arg79Trp) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculofaciocardiodental syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R79W (p.Arg79Trp) variant details
- p.Arg79Trp
- rs1462787258
- ClinGen CA412749163
- ClinVar RCV001952805
- TOPMed rs1462787258
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.64
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available