R40L (p.Arg40Leu) variant of BCL6 (B-cell lymphoma 6 protein)
R40L (p.Arg40Leu) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- 1000Genomes rs573866973
- ExAC rs573866973
- TOPMed rs573866973
- gnomAD rs573866973
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.59
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)