T7A (p.Thr7Ala) variant of UMOD (Uromodulin)
T7A (p.Thr7Ala) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- rs1352086874
- ClinGen CA394967064
- ClinVar RCV002733977
- ClinVar RCV005011191
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.26
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1; Inborn genet)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)