R147W (p.Arg147Trp) variant of BCL6 (B-cell lymphoma 6 protein)
R147W (p.Arg147Trp) in BCL6 (B-cell lymphoma 6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
R147W (p.Arg147Trp) variant details
- p.Arg147Trp
- rs754091486
- ClinGen CA89693206
- cosmic curated COSV51650
- ClinVar RCV004294914
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)