R94Q (p.Arg94Gln) variant of BCL6 (B-cell lymphoma 6 protein)
R94Q (p.Arg94Gln) in BCL6 (B-cell lymphoma 6 protein) is a missense change. Clinical records from ClinVar 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 0.53 / 1. The record also includes population frequency data.
R94Q (p.Arg94Gln) variant details
- p.Arg94Gln
- rs768771889
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99215
- ExAC rs768771889
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.34
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)