R185S (p.Arg185Ser) variant of UMOD (Uromodulin)
R185S (p.Arg185Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R185S (p.Arg185Ser) variant details
- p.Arg185Ser
- rs1567310155
- ClinGen CA394985495
- ClinVar RCV004531830
- ClinVar RCV006451450
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.84
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Population evidence available
- Structural context available
- Cited in: A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of… (PMID 14569098)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)