R99P (p.Arg99Pro) variant of UMOD (Uromodulin)
R99P (p.Arg99Pro) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R99P (p.Arg99Pro) variant details
- p.Arg99Pro
- TOPMed rs1379259057
- gnomAD rs1379259057
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.58
- CADD 21.70
- PolyPhen-2 0.81
- SIFT 0.03
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available