V20R (p.Val20Arg) variant of LAMA2 (Laminin subunit alpha-2)
V20R (p.Val20Arg) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
V20R (p.Val20Arg) variant details
- p.Val20Arg
- gnomAD 6-128883296-C-CG
- Frameshift
- CADD 24.10
- Population evidence available
- Literature evidence available