T42M (p.Thr42Met) variant of UMOD (Uromodulin)
T42M (p.Thr42Met) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T42M (p.Thr42Met) variant details
- p.Thr42Met
- rs773293322
- ClinGen CA7939491
- ClinVar RCV003198454
- ClinVar RCV005021847
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.35
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.24
- 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 6.5e-05)
- 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)