P30A (p.Pro30Ala) variant of MYCN (N-myc proto-oncogene protein)
P30A (p.Pro30Ala) in MYCN (N-myc proto-oncogene protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- gnomAD 2-15940673-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available