C4Y (p.Cys4Tyr) variant of MYCN (N-myc proto-oncogene protein)
C4Y (p.Cys4Tyr) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
C4Y (p.Cys4Tyr) variant details
- p.Cys4Tyr
- ExAC rs756249997
- TOPMed rs756249997
- gnomAD rs756249997
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.28
- MetaLR 0.40
- MetaSVM -0.55
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available