T60M (p.Thr60Met) variant of BCOR (BCL-6 corepressor)
T60M (p.Thr60Met) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Oculofaciocardiodental syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs202121665
- ClinGen CA10387078
- ClinVar RCV001519682
- ClinVar RCV003883688
- Benign/Likely benign
- Oculofaciocardiodental syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.71
- SIFT 0.09
- ClinVar: Benign/Likely benign (Oculofaciocardiodental syndrome; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- Structural context available