S80R (p.Ser80Arg) variant of VHL (P40337)
S80R (p.Ser80Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S80R (p.Ser80Arg) variant details
- p.Ser80Arg
- rs786202787
- ClinGen CA16621913
- cosmic curated COSV56547
- ClinVar RCV000590356
- Likely pathogenic
- Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.54
- ClinVar: Likely pathogenic (Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndr)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)