L10F (p.Leu10Phe) variant of LAMA2 (Laminin subunit alpha-2)
L10F (p.Leu10Phe) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs754627719
- ClinGen CA3992195
- ClinVar RCV003577818
- ExAC rs754627719
- Likely benign
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.04
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Likely benign (LAMA2-related muscular dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)