A461E (p.Ala461Glu) variant of UMOD (Uromodulin)
A461E (p.Ala461Glu) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1; Autosomal dominant medullary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A461E (p.Ala461Glu) variant details
- p.Ala461Glu
- rs780475918
- ClinGen CA394982546
- ClinVar RCV002251596
- ClinVar RCV003222351
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; Autosomal dominant medullary
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.69
- AlphaMissense 0.30
- MetaLR 0.71
- MetaSVM 0.31
- CADD 24.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1; Autosomal do)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Population evidence available
- Structural context available
- Cited in: A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous… (PMID 21060763)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)