P236T (p.Pro236Thr) variant of UMOD (Uromodulin)
P236T (p.Pro236Thr) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P236T (p.Pro236Thr) variant details
- p.Pro236Thr
- rs2507386812
- ClinGen CA394985031
- ClinVar RCV003544325
- ClinVar RCV005254818
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.90
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Likely pathogenic (in ADTKD1)
- UniProt: Likely pathogenic (in ADTKD1)
- Population evidence available
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)