R42S (p.Arg42Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
R42S (p.Arg42Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of COL3A1-related disorder. The record also includes structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- rs2469105686
- ClinGen CA349846918
- ClinVar RCV004528749
- Uncertain significance
- COL3A1-related disorder
- Missense
- ClinVar: Uncertain significance (COL3A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available