R74H (p.Arg74His) variant of BCOR (BCL-6 corepressor)
R74H (p.Arg74His) 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 not provided; Oculofaciocardiodental syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R74H (p.Arg74His) variant details
- p.Arg74His
- rs1434826738
- ClinGen CA412749189
- cosmic curated COSV60713
- ClinVar RCV000519315
- Uncertain significance
- not provided; Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.54
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.9e-05)
- Structural context available