R99L (p.Arg99Leu) variant of UMOD (Uromodulin)
R99L (p.Arg99Leu) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R99L (p.Arg99Leu) variant details
- p.Arg99Leu
- TOPMed rs1379259057
- gnomAD rs1379259057
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.25
- CADD 10.10
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available