C77R (p.Cys77Arg) variant of UMOD (Uromodulin)
C77R (p.Cys77Arg) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
C77R (p.Cys77Arg) variant details
- p.Cys77Arg
- rs2141676806
- ClinGen CA394987210
- ClinVar RCV001956241
- Ensembl rs2141676806
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Structural context available