S3T (p.Ser3Thr) variant of MYCN (N-myc proto-oncogene protein)
S3T (p.Ser3Thr) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. 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.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- rs373683425
- ClinGen CA1538099
- ClinVar RCV000591265
- ClinVar RCV003925767
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.29
- MetaLR 0.30
- MetaSVM -0.70
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available