E85R (p.Glu85Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
E85R (p.Glu85Arg) 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.
E85R (p.Glu85Arg) variant details
- p.Glu85Arg
- rs2509258453
- ClinGen CA2580094608
- ClinVar RCV002982165
- Pathogenic
- Frameshift
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)