C217W (p.Cys217Trp) variant of UMOD (Uromodulin)
C217W (p.Cys217Trp) 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 0.91 / 1. The record also includes published literature and structural context.
C217W (p.Cys217Trp) variant details
- p.Cys217Trp
- rs1596561934
- ClinGen CA394985206
- ClinVar RCV002251382
- TOPMed rs1596561934
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)