D267N (p.Asp267Asn) variant of LAMA2 (Laminin subunit alpha-2)
D267N (p.Asp267Asn) 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.
D267N (p.Asp267Asn) variant details
- p.Asp267Asn
- rs748356668
- ClinGen CA3992425
- ClinVar RCV003573547
- ExAC rs748356668
- Pathogenic
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.73
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (LAMA2-related muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)