C120Y (p.Cys120Tyr) variant of UMOD (Uromodulin)
C120Y (p.Cys120Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C120Y (p.Cys120Tyr) variant details
- p.Cys120Tyr
- rs1322587342
- ClinGen CA394986269
- ClinVar RCV003340705
- gnomAD rs1322587342
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.95
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance (in ADTKD1)
- UniProt: Uncertain significance (in ADTKD1)
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)