P17R (p.Pro17Arg) variant of MYCN (N-myc proto-oncogene protein)
P17R (p.Pro17Arg) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- ExAC rs760258394
- gnomAD rs760258394
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.09
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available