G16A (p.Gly16Ala) variant of LAMA2 (Laminin subunit alpha-2)
G16A (p.Gly16Ala) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- TOPMed rs1433923964
- gnomAD rs1433923964
- Uncertain significance
- Missense
- REVEL 0.01
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)