V7S (p.Val7Ser) variant of LAMA2 (Laminin subunit alpha-2)
V7S (p.Val7Ser) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
V7S (p.Val7Ser) variant details
- p.Val7Ser
- gnomAD 6-128883260-CG-C
- Frameshift
- CADD 22.60
- Population evidence available
- Literature evidence available