S59N (p.Ser59Asn) variant of BCOR (BCL-6 corepressor)
S59N (p.Ser59Asn) 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 0.18 / 1. The record also includes population frequency data and structural context.
S59N (p.Ser59Asn) variant details
- p.Ser59Asn
- rs1197348343
- ClinGen CA412749286
- ClinVar RCV001930302
- TOPMed rs1197348343
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available