P30S (p.Pro30Ser) variant of MYCN (N-myc proto-oncogene protein)
P30S (p.Pro30Ser) 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.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs1033508134
- gnomAD 2-15940674-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 19.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.0012)
- Structural context available
- Literature evidence available