L118R (p.Leu118Arg) variant of VHL (P40337)
L118R (p.Leu118Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
L118R (p.Leu118Arg) variant details
- p.Leu118Arg
- rs5030830
- ClinGen CA351753694
- ClinVar RCV000492280
- ClinVar RCV003233031
- Pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- EVE 0.23
- MutPred 0.93
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. (PMID 8730290)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)