S23W (p.Ser23Trp) variant of MYCN (N-myc proto-oncogene protein)
S23W (p.Ser23Trp) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S23W (p.Ser23Trp) variant details
- p.Ser23Trp
- ExAC rs776400798
- TOPMed rs776400798
- gnomAD rs776400798
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.27
- MetaLR 0.15
- MetaSVM -0.88
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available