P236L (p.Pro236Leu) variant of UMOD (Uromodulin)
P236L (p.Pro236Leu) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of UMOD-related disorder; Inborn genetic diseases; Familial juvenile hyperuricemic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P236L (p.Pro236Leu) variant details
- p.Pro236Leu
- rs1447458978
- ClinGen CA394985022
- ClinVar RCV000624817
- ClinVar RCV001268265
- Pathogenic/Likely pathogenic
- UMOD-related disorder; Inborn genetic diseases; Familial juvenile hyperuricemic
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.97
- AlphaMissense 0.47
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (UMOD-related disorder; Inborn genetic diseases; Familial juvenil)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. (PMID 15086896)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)