I75F (p.Ile75Phe) variant of GJA5 (Gap junction alpha-5 protein)
I75F (p.Ile75Phe) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 11; Atrial standstill 1. The record also includes published literature.
I75F (p.Ile75Phe) variant details
- p.Ile75Phe
- rs587777304
- ClinGen CA151265
- ClinVar RCV000114757
- ClinVar RCV002515789
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1
- Missense
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular… (PMID 23348765)