G873R (p.Gly873Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G873R (p.Gly873Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spondyloperipheral dysplasia. The record also includes structural context.
G873R (p.Gly873Arg) variant details
- p.Gly873Arg
- gnomAD rs886041713
- Likely pathogenic
- Spondyloperipheral dysplasia
- Missense
- ClinVar: Likely pathogenic (Spondyloperipheral dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available