C137W (p.Cys137Trp) variant of UMOD (Uromodulin)
C137W (p.Cys137Trp) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.98 / 1. The record also includes structural context.
C137W (p.Cys137Trp) variant details
- p.Cys137Trp
- rs1197633531
- ClinGen CA394986056
- ClinVar RCV001328230
- gnomAD rs1197633531
- Likely pathogenic
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (Autosomal dominant medullary cystic kidney disease with or witho)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available