L12C (p.Leu12Cys) variant of LAMA2 (Laminin subunit alpha-2)
L12C (p.Leu12Cys) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
L12C (p.Leu12Cys) variant details
- p.Leu12Cys
- rs1775913080
- gnomAD 6-128883278-GC-G
- Frameshift
- CADD 27.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available