Q25* (p.Gln25Ter) variant of MYCN (N-myc proto-oncogene protein)
Q25* (p.Gln25Ter) in MYCN (N-myc proto-oncogene protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- rs886041290
- ClinGen CA10602808
- ClinVar RCV000403531
- Ensembl rs886041290
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.732
- MutPred 0.73
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available