P50R (p.Pro50Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
P50R (p.Pro50Arg) 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.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- ESP rs377637698
- ExAC rs377637698
- TOPMed rs377637698
- gnomAD rs377637698
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available