Q23* (p.Gln23Ter) variant of LAMA2 (Laminin subunit alpha-2)
Q23* (p.Gln23Ter) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs2482367178
- ClinGen CA365828278
- ClinVar RCV002872162
- Pathogenic
- Stop Gained
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)