S5T (p.Ser5Thr) variant of UMOD (Uromodulin)
S5T (p.Ser5Thr) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- ExAC rs755992416
- gnomAD rs755992416
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.09
- CADD 0.58
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available