V109L (p.Val109Leu) variant of UMOD (Uromodulin)
V109L (p.Val109Leu) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V109L (p.Val109Leu) variant details
- p.Val109Leu
- ExAC rs751919061
- TOPMed rs751919061
- gnomAD rs751919061
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.44
- CADD 18.20
- PolyPhen-2 0.74
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available