C317G (p.Cys317Gly) variant of UMOD (Uromodulin)
C317G (p.Cys317Gly) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C317G (p.Cys317Gly) variant details
- p.Cys317Gly
- rs1555487316
- ClinGen CA394983698
- ClinVar RCV002251373
- Ensembl rs1555487316
- Pathogenic/Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)