W8R (p.Trp8Arg) variant of UMOD (Uromodulin)
W8R (p.Trp8Arg) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- ExAC rs780815321
- TOPMed rs780815321
- gnomAD rs780815321
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.22
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available