E32K (p.Glu32Lys) variant of MYCN (N-myc proto-oncogene protein)
E32K (p.Glu32Lys) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- gnomAD rs1218586780
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.38
- MetaLR 0.14
- MetaSVM -0.83
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available