R391C (p.Arg391Cys) variant of MYCN (N-myc proto-oncogene protein)
R391C (p.Arg391Cys) 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 0.88 / 1. The record also includes population frequency data.
R391C (p.Arg391Cys) variant details
- p.Arg391Cys
- cosmic curated COSV55262
- Ensembl rs1662856733
- Likely pathogenic
- Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- MetaLR 0.93
- MetaSVM 1.10
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Feingold syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)