C2909R (p.Cys2909Arg) variant of LAMA2 (Laminin subunit alpha-2)
C2909R (p.Cys2909Arg) 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, population frequency data, and published literature.
C2909R (p.Cys2909Arg) variant details
- p.Cys2909Arg
- rs2533562422
- ClinGen CA365635480
- ClinVar RCV003573554
- Pathogenic
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.89
- MetaLR 0.75
- MetaSVM 0.75
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (LAMA2-related muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)