V109E (p.Val109Glu) variant of UMOD (Uromodulin)
V109E (p.Val109Glu) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of UMOD-related disorder; Kidney disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V109E (p.Val109Glu) variant details
- p.Val109Glu
- rs780462125
- ClinGen CA7939460
- ClinVar RCV000681768
- ClinVar RCV002294367
- Conflicting interpretations
- UMOD-related disorder; Kidney disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (UMOD-related disorder; Kidney disorder; not provided)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular… (PMID 23988501)
- Cited in: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic… (PMID 12471200)