Q36E (p.Gln36Glu) variant of LAMA2 (Laminin subunit alpha-2)
Q36E (p.Gln36Glu) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
Q36E (p.Gln36Glu) variant details
- p.Gln36Glu
- gnomAD rs1360796756
- Pathogenic
- Missense
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)