C27W (p.Cys27Trp) variant of MYCN (N-myc proto-oncogene protein)
C27W (p.Cys27Trp) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C27W (p.Cys27Trp) variant details
- p.Cys27Trp
- gnomAD 2-15942145-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.31
- MetaLR 0.12
- MetaSVM -1.02
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available