A107T (p.Ala107Thr) variant of BCL6 (B-cell lymphoma 6 protein)
A107T (p.Ala107Thr) in BCL6 (B-cell lymphoma 6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
A107T (p.Ala107Thr) variant details
- p.Ala107Thr
- rs752135848
- ClinGen CA2750886
- ClinVar RCV004255644
- ExAC rs752135848
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.09
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00031)