T821P (p.Thr821Pro) variant of LAMA2 (Laminin subunit alpha-2)
T821P (p.Thr821Pro) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
T821P (p.Thr821Pro) variant details
- p.Thr821Pro
- rs186538779
- ClinGen CA051537
- ClinVar RCV000170437
- ClinVar RCV000664485
- Pathogenic
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.82
- MetaLR 0.38
- MetaSVM -0.21
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (LAMA2-related muscular dystrophy)
- EBI: Pathogenic (in MDC1A)
- UniProt: Pathogenic (in MDC1A)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)