A39D (p.Ala39Asp) variant of UMOD (Uromodulin)
A39D (p.Ala39Asp) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 1; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- rs762973149
- ClinGen CA394965653
- ClinVar RCV000714152
- ClinVar RCV002499298
- Uncertain significance
- Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 1; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.85
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial juvenile hyperuricemic nephrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)