C106F (p.Cys106Phe) variant of UMOD (Uromodulin)
C106F (p.Cys106Phe) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of UMOD-related disorder; Familial juvenile hyperuricemic nephropathy type 1; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C106F (p.Cys106Phe) variant details
- p.Cys106Phe
- rs398123697
- ClinGen CA221976
- ClinVar RCV000681797
- ClinVar RCV002251330
- Conflicting interpretations
- UMOD-related disorder; Familial juvenile hyperuricemic nephropathy type 1; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.91
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (UMOD-related disorder; Familial juvenile hyperuricemic nephropat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)