C52F (p.Cys52Phe) variant of UMOD (Uromodulin)
C52F (p.Cys52Phe) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
C52F (p.Cys52Phe) variant details
- p.Cys52Phe
- rs2141677115
- ClinGen CA394987832
- ClinVar RCV001814706
- Ensembl rs2141677115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.92
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in ADTKD1)
- UniProt: Uncertain significance (in ADTKD1)
- Structural context available