A39P (p.Ala39Pro) variant of UMOD (Uromodulin)
A39P (p.Ala39Pro) 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 0.77 / 1. The record also includes published literature and structural context.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- rs1245943973
- ClinGen CA394965657
- ClinVar RCV002272815
- TOPMed rs1245943973
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.15
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)