R204G (p.Arg204Gly) variant of UMOD (Uromodulin)
R204G (p.Arg204Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R204G (p.Arg204Gly) variant details
- p.Arg204Gly
- rs1567310019
- ClinGen CA394985329
- ClinVar RCV000714155
- ClinVar RCV002499299
- Pathogenic/Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.45
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- 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: Defective intracellular trafficking of uromodulin mutant isoforms. (PMID 17010121)