S18P (p.Ser18Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
S18P (p.Ser18Pro) 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 COL6A3-related disorder. The record also includes structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- rs2469981289
- ClinGen CA351229220
- ClinVar RCV004552435
- Uncertain significance
- COL6A3-related disorder
- Missense
- ClinVar: Uncertain significance (COL6A3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available