L8R (p.Leu8Arg) variant of LAMA2 (Laminin subunit alpha-2)
L8R (p.Leu8Arg) in LAMA2 (Laminin subunit alpha-2) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD 6-128883268-T-G
- Missense
- REVEL 0.25
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Literature evidence available