R204C (p.Arg204Cys) variant of UMOD (Uromodulin)
R204C (p.Arg204Cys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R204C (p.Arg204Cys) variant details
- p.Arg204Cys
- rs1567310019
- ClinGen CA394985328
- ClinVar RCV003494532
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.94
- AlphaMissense 0.45
- MetaLR 0.99
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic (in ADTKD1)
- UniProt: Likely pathogenic (in ADTKD1)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)