L101P (p.Leu101Pro) variant of VHL (P40337)
L101P (p.Leu101Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- rs1553619456
- ClinGen CA351751000
- cosmic curated COSV56547
- ClinVar RCV000574983
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.84
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.30
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Likely pathogenic (in VHLD)
- UniProt: Likely pathogenic (in VHLD)
- Population evidence available
- 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)