E75* (p.Glu75Ter) variant of HNRNPU (Q00839)
E75* (p.Glu75Ter) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E75* (p.Glu75Ter) variant details
- p.Glu75Ter
- rs773969888
- ClinGen CA345497610
- ClinVar RCV002250050
- ExAC rs773969888
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)