P4S (p.Pro4Ser) variant of UMOD (Uromodulin)
P4S (p.Pro4Ser) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- ExAC rs745885627
- TOPMed rs745885627
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.25
- CADD 7.23
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available