L9H (p.Leu9His) variant of LAMA2 (Laminin subunit alpha-2)
L9H (p.Leu9His) 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 and published literature.
L9H (p.Leu9His) variant details
- p.Leu9His
- rs915657383
- ClinGen CA147234470
- ClinVar RCV003011349
- Ensembl rs915657383
- Uncertain significance
- LAMA2-related muscular dystrophy
- Missense
- AlphaMissense 0.34
- MetaLR 0.03
- MetaSVM -1.09
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)