G18W (p.Gly18Trp) variant of LAMA2 (Laminin subunit alpha-2)
G18W (p.Gly18Trp) 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.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- ExAC rs747860244
- TOPMed rs747860244
- gnomAD rs747860244
- Uncertain significance
- Missense
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)