G45R (p.Gly45Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G45R (p.Gly45Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs2524082382
- ClinGen CA413908901
- ClinVar RCV002725746
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available