R185C (p.Arg185Cys) variant of UMOD (Uromodulin)
R185C (p.Arg185Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R185C (p.Arg185Cys) variant details
- p.Arg185Cys
- rs1567310155
- ClinGen CA394985492
- ClinVar RCV000714154
- ClinVar RCV002493270
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.87
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Population evidence available
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)