R40C (p.Arg40Cys) variant of BCL6 (B-cell lymphoma 6 protein)
R40C (p.Arg40Cys) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- cosmic curated COSV51650
- ESP rs147478441
- ExAC rs147478441
- TOPMed rs147478441
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.46
- CADD 29.70
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 0.00034)