V13I (p.Val13Ile) variant of VHL (P40337)
V13I (p.Val13Ile) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- rs919338576
- ClinGen CA70042199
- ClinVar RCV000532105
- ClinVar RCV004023757
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.24
- AlphaMissense 0.11
- MetaLR 0.35
- MetaSVM -0.67
- CADD 8.56
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Likely benign
- UniProt: Likely benign
- 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)