T26S (p.Thr26Ser) variant of UMOD (Uromodulin)
T26S (p.Thr26Ser) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- ExAC rs769806862
- TOPMed rs769806862
- gnomAD rs769806862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.18
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00096)
- Structural context available