V93I (p.Val93Ile) variant of UMOD (Uromodulin)
V93I (p.Val93Ile) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V93I (p.Val93Ile) variant details
- p.Val93Ile
- TOPMed rs1230317680
- gnomAD rs1230317680
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.29
- CADD 2.38
- PolyPhen-2 0.07
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available