C106Y (p.Cys106Tyr) variant of UMOD (Uromodulin)
C106Y (p.Cys106Tyr) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant medullary cystic kidney disease with or without hyperuricemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C106Y (p.Cys106Tyr) variant details
- p.Cys106Tyr
- rs398123697
- ClinGen CA394986605
- ClinVar RCV001328229
- ClinVar RCV002251383
- Pathogenic/Likely pathogenic
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant medullary cystic kidney disease with or witho)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)