P2L (p.Pro2Leu) variant of MYCN (N-myc proto-oncogene protein)
P2L (p.Pro2Leu) 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.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- ESP rs370558211
- ExAC rs370558211
- TOPMed rs370558211
- gnomAD rs370558211
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.24
- MetaLR 0.17
- MetaSVM -0.62
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available