V8R (p.Val8Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
V8R (p.Val8Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
V8R (p.Val8Arg) variant details
- p.Val8Arg
- rs2516988200
- ClinGen CA2580098886
- ClinVar RCV003143717
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available