N145H (p.Asn145His) variant of BCL6 (B-cell lymphoma 6 protein)
N145H (p.Asn145His) 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 0.19 / 1. The record also includes population frequency data.
N145H (p.Asn145His) variant details
- p.Asn145His
- rs944713285
- ClinGen CA89693209
- ClinVar RCV004296042
- TOPMed rs944713285
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- CADD 17.90
- PolyPhen-2 0.19
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)