C14F (p.Cys14Phe) variant of MYCN (N-myc proto-oncogene protein)
C14F (p.Cys14Phe) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C14F (p.Cys14Phe) variant details
- p.Cys14Phe
- gnomAD 2-15942105-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.01
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available