P4Q (p.Pro4Gln) variant of UMOD (Uromodulin)
P4Q (p.Pro4Gln) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- gnomAD rs1965849508
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.19
- CADD 9.79
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available