P70A (p.Pro70Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
P70A (p.Pro70Ala) 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.
P70A (p.Pro70Ala) variant details
- p.Pro70Ala
- ExAC rs771749616
- TOPMed rs771749616
- gnomAD rs771749616
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available