T95K (p.Thr95Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
T95K (p.Thr95Lys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The record also includes structural context.
T95K (p.Thr95Lys) variant details
- p.Thr95Lys
- ExAC rs769697782
- TOPMed rs769697782
- gnomAD rs769697782
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available