G114S (p.Gly114Ser) variant of VHL (P40337)
G114S (p.Gly114Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G114S (p.Gly114Ser) variant details
- p.Gly114Ser
- rs869025636
- ClinGen CA351751372
- cosmic curated COSV56546
- ClinVar RCV000707336
- Pathogenic/Likely pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- MutPred 0.91
- ClinVar: Pathogenic/Likely pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic… (PMID 8825918)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)