R82S (p.Arg82Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R82S (p.Arg82Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign.
R82S (p.Arg82Ser) variant details
- p.Arg82Ser
- TOPMed rs1026310165
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign