G65C (p.Gly65Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
G65C (p.Gly65Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
G65C (p.Gly65Cys) variant details
- p.Gly65Cys
- ExAC rs776036994
- TOPMed rs776036994
- gnomAD rs776036994
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available