V47I (p.Val47Ile) variant of UMOD (Uromodulin)
V47I (p.Val47Ile) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Familial juvenile hyperuricemic nephropat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- rs917737950
- ClinGen CA279300289
- ClinVar RCV002251388
- ClinVar RCV002556281
- Uncertain significance
- not provided; Inborn genetic diseases; Familial juvenile hyperuricemic nephropat
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.20
- CADD 1.54
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Familial juvenile hyperur)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- 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)