Q30* (p.Gln30Ter) variant of LAMA2 (Laminin subunit alpha-2)
Q30* (p.Gln30Ter) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- gnomAD 6-128883333-C-T
- Stop Gained
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Literature evidence available