R82P (p.Arg82Pro) variant of VHL (P40337)
R82P (p.Arg82Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 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.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- rs794726890
- ClinGen CA020159
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- not provided; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.60
- ClinVar: Pathogenic (not provided; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (PMID 12202531)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)