V84L (p.Val84Leu) variant of VHL (P40337)
V84L (p.Val84Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- rs5030827
- ClinGen CA020170
- ClinVar RCV000002324
- ClinVar RCV001851579
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.63
- MetaLR 0.97
- MetaSVM 1.28
- CADD 23.80
- SIFT 0.02
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. (PMID 16502427)
- Cited in: Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. (PMID 7784063)