L11P (p.Leu11Pro) variant of LAMA2 (Laminin subunit alpha-2)
L11P (p.Leu11Pro) 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 and published literature.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs730880252
- ClinGen CA273738
- ClinVar RCV000157587
- ClinVar RCV002469031
- Uncertain significance
- LAMA2-related muscular dystrophy; not provided
- Missense
- AlphaMissense 0.22
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.48
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)