C217R (p.Cys217Arg) variant of UMOD (Uromodulin)
C217R (p.Cys217Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C217R (p.Cys217Arg) variant details
- p.Cys217Arg
- rs28934583
- ClinGen CA256240
- ClinVar RCV002251319
- UniProt VAR 017668
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.97
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 1.02
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Population evidence available
- Structural context available
- Cited in: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic… (PMID 12471200)
- Cited in: Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein… (PMID 15589826)