Q76* (p.Gln76Ter) variant of HNRNPU (Q00839)
Q76* (p.Gln76Ter) 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.
Q76* (p.Gln76Ter) variant details
- p.Gln76Ter
- rs1221183673
- ClinGen CA345497602
- ClinVar RCV002825119
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.67
- MutPred 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)