A40T (p.Ala40Thr) variant of GJA5 (Gap junction alpha-5 protein)
A40T (p.Ala40Thr) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 11; Atrial standstill 1.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- TOPMed rs1663885804
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1
- Missense
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1)
- UniProt: Uncertain significance