R41S (p.Arg41Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
R41S (p.Arg41Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- ExAC rs769457034
- TOPMed rs769457034
- gnomAD rs769457034
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available