P30L (p.Pro30Leu) variant of MYCN (N-myc proto-oncogene protein)
P30L (p.Pro30Leu) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD rs1662700836
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 19.70
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available