W258C (p.Trp258Cys) variant of UMOD (Uromodulin)
W258C (p.Trp258Cys) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W258C (p.Trp258Cys) variant details
- p.Trp258Cys
- rs1567309582
- ClinGen CA394984546
- ClinVar RCV000681859
- ClinVar RCV002251376
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.78
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)