M12I (p.Met12Ile) variant of MYCN (N-myc proto-oncogene protein)
M12I (p.Met12Ile) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M12I (p.Met12Ile) variant details
- p.Met12Ile
- NCI-TCGA Cosmic COSV9980
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.00
- CADD 22.10
- PolyPhen-2 0.16
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available