E90R (p.Glu90Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
E90R (p.Glu90Arg) 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 published literature and structural context.
E90R (p.Glu90Arg) variant details
- p.Glu90Arg
- rs2509258309
- ClinGen CA2739268234
- ClinVar RCV003631774
- Pathogenic
- Frameshift
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)