C120G (p.Cys120Gly) variant of UMOD (Uromodulin)
C120G (p.Cys120Gly) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C120G (p.Cys120Gly) variant details
- p.Cys120Gly
- rs1555487621
- ClinGen CA394986277
- ClinVar RCV002251374
- UniProt VAR 077514
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the… (PMID 27729211)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)