G58C (p.Gly58Cys) variant of UMOD (Uromodulin)
G58C (p.Gly58Cys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
G58C (p.Gly58Cys) variant details
- p.Gly58Cys
- rs748228253
- ClinGen CA394987735
- ClinVar RCV003559907
- ClinVar RCV005014774
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.51
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.70
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)