C217G (p.Cys217Gly) variant of UMOD (Uromodulin)
C217G (p.Cys217Gly) 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 0.91 / 1. The record also includes published literature and structural context.
C217G (p.Cys217Gly) variant details
- p.Cys217Gly
- rs28934583
- ClinGen CA261112
- ClinVar RCV002251328
- UniProt VAR 073062
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of… (PMID 14569098)
- Cited in: Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones. (PMID 22117067)