F37I (p.Phe37Ile) variant of MYCN (N-myc proto-oncogene protein)
F37I (p.Phe37Ile) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F37I (p.Phe37Ile) variant details
- p.Phe37Ile
- TOPMed rs1255684004
- gnomAD rs1255684004
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.11
- CADD 26.60
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available