T48A (p.Thr48Ala) variant of BCL6 (B-cell lymphoma 6 protein)
T48A (p.Thr48Ala) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- TOPMed rs1719146292
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available