P30R (p.Pro30Arg) variant of MYCN (N-myc proto-oncogene protein)
P30R (p.Pro30Arg) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- gnomAD rs1662700836
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.29
- MetaLR 0.12
- MetaSVM -0.93
- CADD 26.40
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available