C54R (p.Cys54Arg) variant of GJA5 (Gap junction alpha-5 protein)
C54R (p.Cys54Arg) 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. The record also includes population frequency data.
C54R (p.Cys54Arg) variant details
- p.Cys54Arg
- rs1216121818
- ClinGen CA342398058
- ClinVar RCV002666781
- TOPMed rs1216121818
- 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
- Population evidence available