L221I (p.Leu221Ile) variant of GJA5 (Gap junction alpha-5 protein)
L221I (p.Leu221Ile) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial fibrillation, familial, 11. The record also includes published literature and structural context.
L221I (p.Leu221Ile) variant details
- p.Leu221Ile
- rs387906614
- ClinGen CA128544
- ClinVar RCV000022514
- UniProt VAR 066250
- Pathogenic
- Atrial fibrillation, familial, 11
- Missense
- ClinVar: Pathogenic (Atrial fibrillation, familial, 11)
- EBI: Pathogenic (in ATFB11)
- UniProt: Pathogenic (in ATFB11)
- Structural context available
- Cited in: Novel connexin40 missense mutations in patients with familial atrial fibrillation. (PMID 20650941)
- Cited in: Connexin40 nonsense mutation in familial atrial fibrillation. (PMID 20818502)