C248S (p.Cys248Ser) variant of UMOD (Uromodulin)
C248S (p.Cys248Ser) 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 0.88 / 1. The record also includes published literature and structural context.
C248S (p.Cys248Ser) variant details
- p.Cys248Ser
- rs398122388
- ClinGen CA264233
- ClinVar RCV002251329
- Ensembl rs398122388
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. (PMID 20172860)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)