C120R (p.Cys120Arg) variant of UMOD (Uromodulin)
C120R (p.Cys120Arg) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C120R (p.Cys120Arg) variant details
- p.Cys120Arg
- rs1555487621
- ClinGen CA394986280
- ClinVar RCV003022742
- ClinVar RCV005010874
- Likely pathogenic
- not provided; Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (not provided; Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic (in ADTKD1)
- UniProt: Likely pathogenic (in ADTKD1)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)