G18R (p.Gly18Arg) variant of LAMA2 (Laminin subunit alpha-2)
G18R (p.Gly18Arg) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs747860244
- ClinGen CA365828249
- ClinVar RCV002624658
- ExAC rs747860244
- Uncertain significance
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.14
- CADD 15.90
- PolyPhen-2 0.10
- SIFT 0.47
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)