R51K (p.Arg51Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
R51K (p.Arg51Lys) in COL6A1 (Collagen alpha-1(VI) 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.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- rs2526307426
- ClinGen CA410514647
- ClinVar RCV003480378
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available