L12R (p.Leu12Arg) variant of LAMA2 (Laminin subunit alpha-2)
L12R (p.Leu12Arg) in LAMA2 (Laminin subunit alpha-2) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 6-128883280-T-G
- Missense
- REVEL 0.27
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Literature evidence available