T49M (p.Thr49Met) variant of UMOD (Uromodulin)
T49M (p.Thr49Met) 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 0.42 / 1. The record also includes population frequency data and structural context.
T49M (p.Thr49Met) variant details
- p.Thr49Met
- TOPMed rs1172018079
- gnomAD rs1172018079
- cosmic curated COSV10020
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.42
- CADD 21.90
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available