C174R (p.Cys174Arg) variant of UMOD (Uromodulin)
C174R (p.Cys174Arg) 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 and structural context.
C174R (p.Cys174Arg) variant details
- p.Cys174Arg
- rs2507388361
- ClinGen CA394985623
- ClinVar RCV003559906
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.89
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available