P236R (p.Pro236Arg) variant of UMOD (Uromodulin)
P236R (p.Pro236Arg) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.83 / 1. The record also includes published literature and structural context.
P236R (p.Pro236Arg) variant details
- p.Pro236Arg
- rs1447458978
- ClinVar RCV004595270
- ClinVar RCV005412670
- UniProt VAR 073066
- Pathogenic/Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.47
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available
- Cited in: Defective intracellular trafficking of uromodulin mutant isoforms. (PMID 17010121)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)