G11A (p.Gly11Ala) variant of MYCN (N-myc proto-oncogene protein)
G11A (p.Gly11Ala) 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.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- ExAC rs772399455
- gnomAD rs772399455
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -1.05
- CADD 24.10
- PolyPhen-2 0.81
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available