G3R (p.Gly3Arg) variant of LAMA2 (Laminin subunit alpha-2)
G3R (p.Gly3Arg) 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.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- rs761472320
- ClinGen CA3992190
- ClinVar RCV002611783
- ExAC rs761472320
- Uncertain significance
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00016)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)