R1508T (p.Arg1508Thr) variant of LAMA2 (Laminin subunit alpha-2)
R1508T (p.Arg1508Thr) 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.
R1508T (p.Arg1508Thr) variant details
- p.Arg1508Thr
- rs770084568
- ClinGen CA365617605
- ClinVar RCV001381201
- ExAC rs770084568
- Pathogenic
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.54
- CADD 36.00
- 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 5.4e-06)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)