L12Q (p.Leu12Gln) variant of LAMA2 (Laminin subunit alpha-2)
L12Q (p.Leu12Gln) in LAMA2 (Laminin subunit alpha-2) is a missense change. The record also includes variant effect predictions and population frequency data.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- ExAC rs780670230
- gnomAD rs780670230
- Missense
- REVEL 0.25
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)