E68K (p.Glu68Lys) variant of UMOD (Uromodulin)
E68K (p.Glu68Lys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Kidney failure; Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- rs1965761636
- ClinGen CA394987445
- ClinVar RCV002251401
- ClinVar RCV005626340
- Uncertain significance
- not provided; Kidney failure; Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.62
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.87
- ClinVar: Uncertain significance (not provided; Kidney failure; Familial juvenile hyperuricemic ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)