T26I (p.Thr26Ile) variant of UMOD (Uromodulin)
T26I (p.Thr26Ile) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- rs769806862
- ClinGen CA7939534
- ClinVar RCV002251389
- ExAC rs769806862
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.28
- CADD 1.55
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)