A79T (p.Ala79Thr) variant of UMOD (Uromodulin)
A79T (p.Ala79Thr) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- TOPMed rs965326455
- gnomAD rs965326455
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.23
- CADD 1.83
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available