C50S (p.Cys50Ser) variant of UMOD (Uromodulin)
C50S (p.Cys50Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar 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 0.96 / 1. The record also includes published literature and structural context.
C50S (p.Cys50Ser) variant details
- p.Cys50Ser
- rs2141677149
- ClinGen CA394987868
- ClinVar RCV002251417
- Ensembl rs2141677149
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)