R391S (p.Arg391Ser) variant of MYCN (N-myc proto-oncogene protein)
R391S (p.Arg391Ser) 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 0.77 / 1. The record also includes published literature.
R391S (p.Arg391Ser) variant details
- p.Arg391Ser
- rs1662856733
- ClinGen CA345932430
- ClinVar RCV001252328
- Ensembl rs1662856733
- Likely pathogenic
- Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- MutPred 0.77
- ClinVar: Likely pathogenic (Feingold syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Feingold Syndrome 1. (PMID 20301770)