R9S (p.Arg9Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
R9S (p.Arg9Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- TOPMed rs1199682443
- gnomAD rs1199682443
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available