Q30K (p.Gln30Lys) variant of LAMA2 (Laminin subunit alpha-2)
Q30K (p.Gln30Lys) in LAMA2 (Laminin subunit alpha-2) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
Q30K (p.Gln30Lys) variant details
- p.Gln30Lys
- gnomAD 6-128883333-C-A
- Missense
- REVEL 0.05
- CADD 12.80
- PolyPhen-2 0.02
- SIFT 0.74
- Population evidence available
- Literature evidence available