R64P (p.Arg64Pro) variant of VHL (P40337)
R64P (p.Arg64Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R64P (p.Arg64Pro) variant details
- p.Arg64Pro
- rs104893826
- Civic 1867
- ClinGen CA020089
- cosmic curated COSV56553
- Pathogenic
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.61
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in PCC)
- UniProt: Pathogenic (in PCC)
- Structural context available
- Cited in: Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. (PMID 9663592)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)