R200W (p.Arg200Trp) variant of VHL (P40337)
R200W (p.Arg200Trp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; VHL-related disorde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R200W (p.Arg200Trp) variant details
- p.Arg200Trp
- rs28940298
- ClinGen CA020510
- cosmic curated COSV56549
- ClinVar RCV000002320
- Conflicting interpretations
- Inherited phaeochromocytoma and paraganglioma excluding NF1; VHL-related disorde
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.87
- MetaLR 0.99
- MetaSVM 0.96
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inherited phaeochromocytoma and paraganglioma excluding NF1; VHL)
- EBI: Pathogenic (in ECYT2 and VHLD)
- UniProt: Pathogenic (in ECYT2 and VHLD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Localization of the gene responsible for familial benign polycythemia to chromosome 11q23. (PMID 10364675)
- Cited in: Endemic polycythemia in Russia: mutation in the VHL gene. (PMID 11987242)