E96D (p.Glu96Asp) variant of UMOD (Uromodulin)
E96D (p.Glu96Asp) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E96D (p.Glu96Asp) variant details
- p.Glu96Asp
- TOPMed rs1965755063
- gnomAD rs1965755063
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available