T9A (p.Thr9Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
T9A (p.Thr9Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- 1000Genomes rs3803183
- ESP rs3803183
- ExAC rs3803183
- TOPMed rs3803183
- Benign
- Missense
- EBI: Benign (in dbSNP:rs3803183)
- UniProt: Benign (in dbSNP:rs3803183)
- Structural context available