I112T (p.Ile112Thr) variant of COL2A1 (Collagen alpha-1(II) chain)
I112T (p.Ile112Thr) 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.
I112T (p.Ile112Thr) variant details
- p.Ile112Thr
- rs2540182746
- ClinGen CA384525320
- ClinVar RCV002296586
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available