I151V (p.Ile151Val) variant of VHL (P40337)
I151V (p.Ile151Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I151V (p.Ile151Val) variant details
- p.Ile151Val
- rs876659313
- ClinGen CA351754350
- ClinVar RCV001063276
- ClinVar RCV002290579
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.78
- MetaLR 0.99
- MetaSVM 0.98
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)