C35W (p.Cys35Trp) variant of UMOD (Uromodulin)
C35W (p.Cys35Trp) 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 0.97 / 1. The record also includes structural context.
C35W (p.Cys35Trp) variant details
- p.Cys35Trp
- rs1596563386
- ClinGen CA394965709
- ClinVar RCV001239432
- Ensembl rs1596563386
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available