S59T (p.Ser59Thr) variant of BCOR (BCL-6 corepressor)
S59T (p.Ser59Thr) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S59T (p.Ser59Thr) variant details
- p.Ser59Thr
- TOPMed rs1197348343
- gnomAD rs1197348343
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.10
- CADD 5.33
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available