C112Y (p.Cys112Tyr) variant of UMOD (Uromodulin)
C112Y (p.Cys112Tyr) 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 0.89 / 1. The record also includes published literature and structural context.
C112Y (p.Cys112Tyr) variant details
- p.Cys112Tyr
- rs2141676232
- ClinGen CA394986458
- ClinVar RCV002251418
- Ensembl rs2141676232
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)