I78M (p.Ile78Met) variant of BCL6 (B-cell lymphoma 6 protein)
I78M (p.Ile78Met) 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 0.43 / 1. The record also includes population frequency data.
I78M (p.Ile78Met) variant details
- p.Ile78Met
- rs774593110
- ClinGen CA2750900
- ClinVar RCV004140630
- ExAC rs774593110
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.33
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)