C4F (p.Cys4Phe) variant of MYCN (N-myc proto-oncogene protein)
C4F (p.Cys4Phe) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Feingold syndrome type 1; Megalencephaly-polydactyly syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C4F (p.Cys4Phe) variant details
- p.Cys4Phe
- ExAC rs756249997
- TOPMed rs756249997
- gnomAD rs756249997
- Uncertain significance
- Feingold syndrome type 1; Megalencephaly-polydactyly syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.55
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Feingold syndrome type 1; Megalencephaly-polydactyly syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available