G77E (p.Gly77Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G77E (p.Gly77Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G77E (p.Gly77Glu) variant details
- p.Gly77Glu
- Ensembl rs112204566
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available