L404R (p.Leu404Arg) variant of MYCN (N-myc proto-oncogene protein)
L404R (p.Leu404Arg) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Feingold syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
L404R (p.Leu404Arg) variant details
- p.Leu404Arg
- rs2103331674
- ClinGen CA345932515
- ClinVar RCV003237315
- Ensembl rs2103331674
- Likely pathogenic
- Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- MutPred 0.92
- ClinVar: Likely pathogenic (Feingold syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Feingold Syndrome 1. (PMID 20301770)