R122Q (p.Arg122Gln) variant of BCL6 (B-cell lymphoma 6 protein)
R122Q (p.Arg122Gln) in BCL6 (B-cell lymphoma 6 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R122Q (p.Arg122Gln) variant details
- p.Arg122Gln
- rs372779365
- cosmic curated COSV51651
- 1000Genomes rs372779365
- ESP rs372779365
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available