E90* (p.Glu90Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
E90* (p.Glu90Ter) in COL1A1 (Collagen alpha-1(I) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, published literature, and structural context.
E90* (p.Glu90Ter) variant details
- p.Glu90Ter
- rs748550422
- ClinGen CA400228096
- ClinVar RCV001956530
- ExAC rs748550422
- Pathogenic
- Stop Gained
- MutPred 0.45
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)