R40H (p.Arg40His) variant of BCL6 (B-cell lymphoma 6 protein)
R40H (p.Arg40His) in BCL6 (B-cell lymphoma 6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
R40H (p.Arg40His) variant details
- p.Arg40His
- 1000Genomes rs573866973
- ExAC rs573866973
- TOPMed rs573866973
- gnomAD rs573866973
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.17
- Most common in the 1KG:PEL population (allele frequency 0.0059)