S16T (p.Ser16Thr) variant of UMOD (Uromodulin)
S16T (p.Ser16Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- ExAC rs749912886
- TOPMed rs749912886
- gnomAD rs749912886
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.21
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.83
- CADD 1.52
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available