H2848Q (p.His2848Gln) variant of LAMA2 (Laminin subunit alpha-2)
H2848Q (p.His2848Gln) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
H2848Q (p.His2848Gln) variant details
- p.His2848Gln
- rs1196380787
- ClinGen CA365634500
- ClinVar RCV002593603
- TOPMed rs1196380787
- Likely pathogenic
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.87
- MetaLR 0.59
- MetaSVM 0.19
- CADD 24.00
- SIFT 0.00
- ClinVar: Likely pathogenic (LAMA2-related muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)