N128S (p.Asn128Ser) variant of UMOD (Uromodulin)
N128S (p.Asn128Ser) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N128S (p.Asn128Ser) variant details
- p.Asn128Ser
- rs121917770
- ClinGen CA256248
- ClinVar RCV002251323
- UniProt VAR 025953
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Population evidence available
- Structural context available
- Cited in: Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. (PMID 12519891)
- Cited in: UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. (PMID 12629136)