A2T (p.Ala2Thr) variant of BCL6 (B-cell lymphoma 6 protein)
A2T (p.Ala2Thr) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- 1000Genomes rs200997613
- ESP rs200997613
- TOPMed rs200997613
- gnomAD rs200997613
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.09
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:CHB population (allele frequency 0.0049)