R393S (p.Arg393Ser) variant of MYCN (N-myc proto-oncogene protein)
R393S (p.Arg393Ser) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Feingold syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature.
R393S (p.Arg393Ser) variant details
- p.Arg393Ser
- rs104893647
- ClinGen CA257011
- ClinVar RCV000014907
- UniProt VAR 031953
- Pathogenic
- Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- MutPred 0.91
- ClinVar: Pathogenic (Feingold syndrome type 1)
- EBI: Pathogenic (in FGLDS1)
- UniProt: Pathogenic (in FGLDS1)
- Cited in: MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. (PMID 15821734)
- Cited in: Expanding the clinical spectrum of MYCN-related Feingold syndrome. (PMID 16906565)