C69S (p.Cys69Ser) variant of UMOD (Uromodulin)
C69S (p.Cys69Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
C69S (p.Cys69Ser) variant details
- p.Cys69Ser
- rs1567311279
- ClinGen CA394987404
- ClinVar RCV000681887
- Ensembl rs1567311279
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available