R394H (p.Arg394His) variant of MYCN (N-myc proto-oncogene protein)
R394H (p.Arg394His) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Feingold syndrome; Feingold syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
R394H (p.Arg394His) variant details
- p.Arg394His
- rs104893648
- ClinGen CA257013
- ClinVar RCV000014908
- ClinVar RCV005089257
- Pathogenic/Likely pathogenic
- Feingold syndrome; Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.98
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Feingold syndrome; Feingold syndrome type 1)
- EBI: Pathogenic (in FGLDS1)
- UniProt: Pathogenic (in FGLDS1)
- Population evidence available
- 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)