T9W (p.Thr9Trp) variant of COL2A1 (Collagen alpha-1(II) chain)
T9W (p.Thr9Trp) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
T9W (p.Thr9Trp) variant details
- p.Thr9Trp
- rs1131691546
- ClinGen CA1139662593
- ClinVar RCV001244285
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs3803183)
- UniProt: Uncertain significance (in dbSNP:rs3803183)
- Structural context available