R58G (p.Arg58Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
R58G (p.Arg58Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- ExAC rs780696923
- TOPMed rs780696923
- gnomAD rs780696923
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign