H34R (p.His34Arg) variant of LAMA2 (Laminin subunit alpha-2)
H34R (p.His34Arg) 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; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
H34R (p.His34Arg) variant details
- p.His34Arg
- rs398123366
- ClinGen CA220737
- ClinVar RCV000078744
- ClinVar RCV001209509
- Uncertain significance
- LAMA2-related muscular dystrophy; not provided
- Missense
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)