P26L (p.Pro26Leu) variant of MYCN (N-myc proto-oncogene protein)
P26L (p.Pro26Leu) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Feingold syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1662700407
- ClinGen CA345930101
- ClinVar RCV002226846
- TOPMed rs1662700407
- Likely pathogenic
- Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.44
- MetaLR 0.29
- MetaSVM -0.32
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Feingold syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Feingold Syndrome 1. (PMID 20301770)