p.Met12 Cys14del variant of MYCN (N-myc proto-oncogene protein)
p.Met12 Cys14del in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
p.Met12 Cys14del variant details
- rs1048058262
- gnomAD 2-15942095-GGCATG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 21.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available