C393G (p.Cys393Gly) variant of LAMA2 (Laminin subunit alpha-2)
C393G (p.Cys393Gly) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions and published literature.
C393G (p.Cys393Gly) variant details
- p.Cys393Gly
- rs2114976490
- ClinGen CA365607087
- ClinVar RCV001939471
- Ensembl rs2114976490
- Pathogenic
- LAMA2-related muscular dystrophy
- Missense
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (LAMA2-related muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)