E109* (p.Glu109Ter) variant of HNRNPU (Q00839)
E109* (p.Glu109Ter) in HNRNPU (Q00839) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
E109* (p.Glu109Ter) variant details
- p.Glu109Ter
- rs1680930166
- ClinGen CA345497371
- ClinVar RCV002557685
- TOPMed rs1680930166
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.62
- MetaLR 0.09
- MetaSVM -0.98
- PolyPhen-2 0.08
- SIFT 0.10
- MutPred 0.36
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)