V130I (p.Val130Ile) variant of VHL (P40337)
V130I (p.Val130Ile) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V130I (p.Val130Ile) variant details
- p.Val130Ile
- rs104893830
- ClinGen CA351753916
- ClinVar RCV002357396
- ClinVar RCV003102470
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.82
- AlphaMissense 0.51
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.40
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in ECYT2 and VHLD)
- UniProt: Pathogenic (in ECYT2 and VHLD)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)