L158P (p.Leu158Pro) variant of VHL (P40337)
L158P (p.Leu158Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The record also includes published literature and structural context.
L158P (p.Leu158Pro) variant details
- p.Leu158Pro
- rs121913346
- Civic 1738
- ClinGen CA020399
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. (PMID 10635329)
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)