C77S (p.Cys77Ser) variant of UMOD (Uromodulin)
C77S (p.Cys77Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
C77S (p.Cys77Ser) variant details
- p.Cys77Ser
- rs121917768
- ClinGen CA394987202
- ClinVar RCV000517284
- ClinVar RCV005018887
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)