P4T (p.Pro4Thr) variant of UMOD (Uromodulin)
P4T (p.Pro4Thr) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- ExAC rs745885627
- TOPMed rs745885627
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.21
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available