A22R (p.Ala22Arg) variant of LAMA2 (Laminin subunit alpha-2)
A22R (p.Ala22Arg) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
A22R (p.Ala22Arg) variant details
- p.Ala22Arg
- gnomAD 6-128883307-AG-A
- Frameshift
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Literature evidence available