D25V (p.Asp25Val) variant of UMOD (Uromodulin)
D25V (p.Asp25Val) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D25V (p.Asp25Val) variant details
- p.Asp25Val
- ESP rs148980017
- ExAC rs148980017
- TOPMed rs148980017
- gnomAD rs148980017
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.41
- CADD 14.90
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available