A39T (p.Ala39Thr) variant of UMOD (Uromodulin)
A39T (p.Ala39Thr) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial juvenile hyperuricemic nephropathy type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs1245943973
- ClinGen CA394965659
- ClinVar RCV001979058
- TOPMed rs1245943973
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.72
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.15
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available