C14Y (p.Cys14Tyr) variant of MYCN (N-myc proto-oncogene protein)
C14Y (p.Cys14Tyr) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
C14Y (p.Cys14Tyr) variant details
- p.Cys14Tyr
- TOPMed rs886765376
- gnomAD rs886765376
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.05
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available