Q25D (p.Gln25Asp) variant of MYCN (N-myc proto-oncogene protein)
Q25D (p.Gln25Asp) in MYCN (N-myc proto-oncogene protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q25D (p.Gln25Asp) variant details
- p.Gln25Asp
- rs1558532321
- gnomAD 2-15940647-GCA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 18.40
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Literature evidence available