R40G (p.Arg40Gly) variant of BCL6 (B-cell lymphoma 6 protein)
R40G (p.Arg40Gly) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- ESP rs147478441
- ExAC rs147478441
- TOPMed rs147478441
- gnomAD rs147478441
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)