Q32* (p.Gln32Ter) variant of LAMA2 (Laminin subunit alpha-2)
Q32* (p.Gln32Ter) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and population frequency data.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- Ensembl rs1775921049
- Likely pathogenic
- Stop Gained
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)