R55S (p.Arg55Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
R55S (p.Arg55Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
R55S (p.Arg55Ser) variant details
- p.Arg55Ser
- ExAC rs746208298
- TOPMed rs746208298
- gnomAD rs746208298
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance