G846E (p.Gly846Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
G846E (p.Gly846Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Achondrogenesis type II. The record also includes structural context.
G846E (p.Gly846Glu) variant details
- p.Gly846Glu
- gnomAD rs1400290624
- Likely pathogenic
- Achondrogenesis type II
- Missense
- ClinVar: Likely pathogenic (Achondrogenesis type II)
- UniProt: Likely pathogenic
- Structural context available