E68V (p.Glu68Val) variant of UMOD (Uromodulin)
E68V (p.Glu68Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E68V (p.Glu68Val) variant details
- p.Glu68Val
- rs2141676976
- ClinGen CA394987412
- ClinVar RCV002251410
- Ensembl rs2141676976
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.14
- MutPred 0.88
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)