V109M (p.Val109Met) variant of UMOD (Uromodulin)
V109M (p.Val109Met) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V109M (p.Val109Met) variant details
- p.Val109Met
- ExAC rs751919061
- TOPMed rs751919061
- gnomAD rs751919061
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.54
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available