G16D (p.Gly16Asp) variant of LAMA2 (Laminin subunit alpha-2)
G16D (p.Gly16Asp) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs1433923964
- ClinGen CA365828239
- ClinVar RCV000690212
- TOPMed rs1433923964
- Uncertain significance
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.04
- CADD 1.95
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-06)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)