E96K (p.Glu96Lys) variant of UMOD (Uromodulin)
E96K (p.Glu96Lys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- TOPMed rs1357689052
- gnomAD rs1357689052
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- CADD 7.23
- PolyPhen-2 0.07
- SIFT 0.23
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available