G88D (p.Gly88Asp) variant of UMOD (Uromodulin)
G88D (p.Gly88Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G88D (p.Gly88Asp) variant details
- p.Gly88Asp
- rs2141676609
- ClinGen CA394986944
- ClinVar RCV002251604
- Ensembl rs2141676609
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.72
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)