G103C (p.Gly103Cys) variant of UMOD (Uromodulin)
G103C (p.Gly103Cys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of UMOD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
G103C (p.Gly103Cys) variant details
- p.Gly103Cys
- rs28934584
- ClinGen CA256242
- ClinVar RCV002251320
- ClinVar RCV004528105
- Likely pathogenic
- UMOD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.36
- PolyPhen-2 0.57
- SIFT 0.11
- ClinVar: Likely pathogenic (UMOD-related disorder)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic… (PMID 12471200)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)