T62P (p.Thr62Pro) variant of UMOD (Uromodulin)
T62P (p.Thr62Pro) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T62P (p.Thr62Pro) variant details
- p.Thr62Pro
- rs143248111
- ClinGen CA7939482
- ClinVar RCV001245586
- ClinVar RCV002251364
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.54
- CADD 0.07
- PolyPhen-2 0.21
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.0006)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)