T75S (p.Thr75Ser) variant of BCOR (BCL-6 corepressor)
T75S (p.Thr75Ser) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Oculofaciocardiodental syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T75S (p.Thr75Ser) variant details
- p.Thr75Ser
- Ensembl rs2147280910
- Likely benign
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.04
- CADD 6.94
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Likely benign (Oculofaciocardiodental syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available