T9M (p.Thr9Met) variant of COL2A1 (Collagen alpha-1(II) chain)
T9M (p.Thr9Met) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- cosmic curated COSV10047
- 1000Genomes rs557946588
- TOPMed rs557946588
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance (in dbSNP:rs3803183)
- UniProt: Uncertain significance (in dbSNP:rs3803183)
- Structural context available