C27Y (p.Cys27Tyr) variant of MYCN (N-myc proto-oncogene protein)
C27Y (p.Cys27Tyr) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C27Y (p.Cys27Tyr) variant details
- p.Cys27Tyr
- Ensembl rs2103323483
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.29
- MetaLR 0.05
- MetaSVM -1.14
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available