S5T (p.Ser5Thr) variant of MYCN (N-myc proto-oncogene protein)
S5T (p.Ser5Thr) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- rs868623724
- NCI-TCGA Cosmic COSV9980
- Ensembl rs868623724
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.26
- MetaLR 0.12
- MetaSVM -0.79
- CADD 8.02
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0024)
- Structural context available