C148W (p.Cys148Trp) variant of UMOD (Uromodulin)
C148W (p.Cys148Trp) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C148W (p.Cys148Trp) variant details
- p.Cys148Trp
- rs1965741911
- ClinGen CA394985947
- ClinVar RCV002251407
- Ensembl rs1965741911
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PMID 14570709)
- Cited in: A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary… (PMID 20472742)