D31E (p.Asp31Glu) variant of MYCN (N-myc proto-oncogene protein)
D31E (p.Asp31Glu) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- gnomAD rs1339230115
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- MetaLR 0.05
- MetaSVM -1.11
- CADD 23.10
- PolyPhen-2 0.66
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available