A130T (p.Ala130Thr) variant of BCL6 (B-cell lymphoma 6 protein)
A130T (p.Ala130Thr) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- ExAC rs748058804
- gnomAD rs748058804
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.12
- CADD 20.80
- PolyPhen-2 0.27
- SIFT 0.57
- Most common in the South Asian population (allele frequency 5.3e-05)