R107P (p.Arg107Pro) variant of VHL (P40337)
R107P (p.Arg107Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R107P (p.Arg107Pro) variant details
- p.Arg107Pro
- rs193922609
- ClinGen CA020262
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56549
- Pathogenic/Likely pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.48
- ClinVar: Pathogenic/Likely pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. (PMID 9829911)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)