S3N (p.Ser3Asn) variant of MYCN (N-myc proto-oncogene protein)
S3N (p.Ser3Asn) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- 1000Genomes rs373683425
- ESP rs373683425
- ExAC rs373683425
- TOPMed rs373683425
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.30
- MetaLR 0.29
- MetaSVM -0.71
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available