T7I (p.Thr7Ile) variant of UMOD (Uromodulin)
T7I (p.Thr7Ile) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- TOPMed rs1342672055
- gnomAD rs1342672055
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.34
- CADD 8.69
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available