E20A (p.Glu20Ala) variant of MYCN (N-myc proto-oncogene protein)
E20A (p.Glu20Ala) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- gnomAD 2-15942123-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.45
- MetaLR 0.13
- MetaSVM -0.89
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available