L243P (p.Leu243Pro) variant of LAMA2 (Laminin subunit alpha-2)
L243P (p.Leu243Pro) 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 Merosin deficient congenital muscular dystrophy. The record also includes variant effect predictions and published literature.
L243P (p.Leu243Pro) variant details
- p.Leu243Pro
- rs1562273395
- ClinGen CA365606049
- ClinVar RCV000709617
- ClinVar RCV003465646
- Likely pathogenic
- Merosin deficient congenital muscular dystrophy
- Missense
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Likely pathogenic (Merosin deficient congenital muscular dystrophy)
- EBI: Pathogenic (in LGMDR23)
- UniProt: Pathogenic (in LGMDR23)
- Cited in: Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. (PMID 21953594)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)