A94P (p.Ala94Pro) variant of COL2A1 (Collagen alpha-1(II) chain)
A94P (p.Ala94Pro) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
A94P (p.Ala94Pro) variant details
- p.Ala94Pro
- ExAC rs768931460
- TOPMed rs768931460
- gnomAD rs768931460
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available