Q29E (p.Gln29Glu) variant of COL2A1 (Collagen alpha-1(II) chain)
Q29E (p.Gln29Glu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- Ensembl rs1940368506
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available