H62Y (p.His62Tyr) variant of BCOR (BCL-6 corepressor)
H62Y (p.His62Tyr) 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 0.39 / 1. The record also includes population frequency data and structural context.
H62Y (p.His62Tyr) variant details
- p.His62Tyr
- rs1170638648
- ClinGen CA412749268
- ClinVar RCV003486024
- TOPMed rs1170638648
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.21
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available