P50A (p.Pro50Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
P50A (p.Pro50Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I. The record also includes structural context.
P50A (p.Pro50Ala) variant details
- p.Pro50Ala
- TOPMed rs879344129
- gnomAD rs879344129
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available