C315R (p.Cys315Arg) variant of UMOD (Uromodulin)
C315R (p.Cys315Arg) 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 0.90 / 1. The record also includes published literature and structural context.
C315R (p.Cys315Arg) variant details
- p.Cys315Arg
- rs121917773
- ClinGen CA256254
- ClinVar RCV002251326
- UniProt VAR 025961
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Identification of a new locus for medullary cystic disease, on chromosome 16p12. (PMID 10330352)
- Cited in: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. (PMID 14570709)