G93S (p.Gly93Ser) variant of VHL (P40337)
G93S (p.Gly93Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau. 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.
G93S (p.Gly93Ser) variant details
- p.Gly93Ser
- rs5030808
- Civic 1859
- ClinGen CA020230
- cosmic curated COSV56545
- Pathogenic
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.87
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)