F35C (p.Phe35Cys) variant of MYCN (N-myc proto-oncogene protein)
F35C (p.Phe35Cys) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
F35C (p.Phe35Cys) variant details
- p.Phe35Cys
- gnomAD 2-15942168-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.40
- MetaLR 0.29
- MetaSVM -0.88
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available