C969Y (p.Cys969Tyr) variant of LAMA2 (Laminin subunit alpha-2)
C969Y (p.Cys969Tyr) 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 Muscular dystrophy, limb-girdle, autosomal recessive 23. The record also includes variant effect predictions and published literature.
C969Y (p.Cys969Tyr) variant details
- p.Cys969Tyr
- rs2114451064
- ClinGen CA365611004
- ClinVar RCV002259559
- Ensembl rs2114451064
- Likely pathogenic
- Muscular dystrophy, limb-girdle, autosomal recessive 23
- Missense
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Muscular dystrophy, limb-girdle, autosomal recessive 23)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)