R99C (p.Arg99Cys) variant of UMOD (Uromodulin)
R99C (p.Arg99Cys) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R99C (p.Arg99Cys) variant details
- p.Arg99Cys
- ExAC rs770525672
- gnomAD rs770525672
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.60
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available