W184C (p.Trp184Cys) variant of UMOD (Uromodulin)
W184C (p.Trp184Cys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
W184C (p.Trp184Cys) variant details
- p.Trp184Cys
- rs1965732404
- ClinGen CA394985498
- ClinVar RCV002251402
- Ensembl rs1965732404
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.95
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)