E131D (p.Glu131Asp) variant of BCL6 (B-cell lymphoma 6 protein)
E131D (p.Glu131Asp) 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 0.26 / 1. The record also includes population frequency data.
E131D (p.Glu131Asp) variant details
- p.Glu131Asp
- 1000Genomes rs376615026
- ESP rs376615026
- ExAC rs376615026
- TOPMed rs376615026
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.15
- CADD 21.10
- PolyPhen-2 0.93
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)