A5T (p.Ala5Thr) variant of LAMA2 (Laminin subunit alpha-2)
A5T (p.Ala5Thr) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of LAMA2-related muscular dystrophy; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs367622987
- ClinGen CA238603
- ClinVar RCV000173131
- ClinVar RCV000818174
- Conflicting interpretations
- LAMA2-related muscular dystrophy; not provided
- Missense
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (LAMA2-related muscular dystrophy; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)