G11S (p.Gly11Ser) variant of MYCN (N-myc proto-oncogene protein)
G11S (p.Gly11Ser) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- Ensembl rs2103323221
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.22
- MetaLR 0.06
- MetaSVM -0.82
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available