A50T (p.Ala50Thr) variant of GJA5 (Gap junction alpha-5 protein)
A50T (p.Ala50Thr) 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 standstill 1; Atrial fibrillation, familial, 11.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs782167622
- ClinGen CA342398137
- ClinVar RCV000791685
- ExAC rs782167622
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance