H34Y (p.His34Tyr) variant of LAMA2 (Laminin subunit alpha-2)
H34Y (p.His34Tyr) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
H34Y (p.His34Tyr) variant details
- p.His34Tyr
- rs374090280
- ClinGen CA3992210
- ClinVar RCV002761606
- ESP rs374090280
- Uncertain significance
- LAMA2-related muscular dystrophy
- Missense
- REVEL 0.16
- CADD 21.20
- PolyPhen-2 0.24
- SIFT 1.00
- ClinVar: Uncertain significance (LAMA2-related muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)