C442W (p.Cys442Trp) variant of LAMA2 (Laminin subunit alpha-2)
C442W (p.Cys442Trp) 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 LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
C442W (p.Cys442Trp) variant details
- p.Cys442Trp
- rs1226441435
- ClinGen CA365607425
- ClinVar RCV001236837
- Ensembl rs1226441435
- Likely pathogenic
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.90
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (LAMA2-related muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)