A285E (p.Ala285Glu) variant of UMOD (Uromodulin)
A285E (p.Ala285Glu) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A285E (p.Ala285Glu) variant details
- p.Ala285Glu
- rs766919534
- ClinGen CA394984068
- ClinVar RCV001328181
- ClinVar RCV002541644
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.73
- CADD 19.40
- PolyPhen-2 0.87
- SIFT 0.08
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)