S80N (p.Ser80Asn) variant of VHL (P40337)
S80N (p.Ser80Asn) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
S80N (p.Ser80Asn) variant details
- p.Ser80Asn
- rs5030805
- ClinGen CA70046108
- cosmic curated COSV56547
- ClinVar RCV001382228
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.54
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)