I19T (p.Ile19Thr) variant of UMOD (Uromodulin)
I19T (p.Ile19Thr) in UMOD (Uromodulin) is a missense change. 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.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- ExAC rs762195993
- gnomAD rs762195993
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.20
- CADD 3.31
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available