P2R (p.Pro2Arg) variant of MYCN (N-myc proto-oncogene protein)
P2R (p.Pro2Arg) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- ESP rs370558211
- ExAC rs370558211
- TOPMed rs370558211
- gnomAD rs370558211
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.22
- MetaLR 0.19
- MetaSVM -0.73
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available