V12L (p.Val12Leu) variant of COL6A3 (Collagen alpha-3(VI) chain)
V12L (p.Val12Leu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- 1000Genomes rs137910388
- ESP rs137910388
- ExAC rs137910388
- TOPMed rs137910388
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available