G103S (p.Gly103Ser) variant of UMOD (Uromodulin)
G103S (p.Gly103Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G103S (p.Gly103Ser) variant details
- p.Gly103Ser
- TOPMed rs28934584
- gnomAD rs28934584
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.36
- CADD 20.70
- PolyPhen-2 0.57
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available