L128P (p.Leu128Pro) variant of VHL (P40337)
L128P (p.Leu128Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.89 / 1. The record also includes published literature and structural context.
L128P (p.Leu128Pro) variant details
- p.Leu128Pro
- rs2125128327
- ClinGen CA351753889
- ClinVar RCV001577269
- ClinVar RCV002359188
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- EVE 0.58
- MutPred 0.91
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- 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)